-
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome. SAGE Open Med. 2024; 12:20503121241282401.
Protic D, Breeze E, Mendoza G, Zafarullah M, Abbeduto L, Hagerman R, Coffey C, Cudkowicz M, Durbin-Johnson B, Ashwood P, Berry-Kravis E, Erickson CA, Filipink R, Gropman A, Lehwald L, Maxwell-Horn A, Morris S, Bennett AP, Prock L, Talboy A, Tartaglia N, Veenstra-VanderWeele J, Tassone F. PMID: 39483619; PMCID: PMC11526204.
View in:
PubMed Mentions:
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Population-based FMR1 carrier screening among reproductive women. J Assist Reprod Genet. 2024 Sep 25.
Ain Q, Hwang YH, Yeung D, Panpaprai P, Iamurairat W, Chutimongkonkul W, Trachoo O, Tassone F, Jiraanont P. PMID: 39320553.
View in:
PubMed Mentions:
1 Fields:
-
Specific EEG resting state biomarkers in FXS and ASD. J Neurodev Disord. 2024 Sep 09; 16(1):53.
Proteau-Lemieux M, Knoth IS, Davoudi S, Martin CO, Bélanger AM, Fontaine V, Côté V, Agbogba K, Vachon K, Whitlock K, Biag HMB, Thurman AJ, Rosenfelt C, Tassone F, Frei J, Capano L, Abbeduto L, Jacquemont S, Hessl D, Hagerman RJ, Schneider A, Bolduc F, Anagnostou E, Lippe S. PMID: 39251926; PMCID: PMC11382468.
View in:
PubMed Mentions: Fields:
Translation:
Humans
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Psychiatric Manifestations in Early to Middle Stages of Fragile X-Associated Tremor-Ataxia Syndrome (FXTAS). J Neuropsychiatry Clin Neurosci. 2024 Aug 08; appineuropsych20230215.
Chi MH, Bourgeois JA, Santos E, Kim K, Ponzini MD, Mendoza G, Schneider A, Hessl D, Tassone F, Hagerman RJ. PMID: 39113493.
View in:
PubMed Mentions: Fields:
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Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome. Int J Mol Sci. 2024 Jul 25; 25(15).
Winarni TI, Hwang YH, Rivera SM, Hessl D, Durbin-Johnson BP, Utari A, Hagerman R, Tassone F. PMID: 39125677; PMCID: PMC11312271.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reprod Biol Endocrinol. 2024 Jun 21; 22(1):71.
Rodrigues B, Sousa V, Yrigollen CM, Tassone F, Villate O, Allen EG, Glicksman A, Tortora N, Nolin SL, Nogueira AJA, Jorge P. PMID: 38907244; PMCID: PMC11191145.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Longitudinal follow-up of metformin treatment in Fragile X Syndrome. Front Psychol. 2024; 15:1305597.
Seng P, Montanaro FAM, Biag HMB, Salcedo-Arellano MJ, Kim K, Ponzini MD, Tassone F, Schneider A, Abbeduto L, Thurman AJ, Hessl D, Bolduc FV, Jacquemont S, Lippé S, Hagerman RJ. PMID: 38939222; PMCID: PMC11210589.
View in:
PubMed Mentions:
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Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation. Front Neurol. 2024; 15:1401286.
Loesch DZ, Atkinson A, Hall DA, Tassone F, Stimpson P, Storey E. PMID: 38903175; PMCID: PMC11188871.
View in:
PubMed Mentions:
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Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers. J Neurol Sci. 2024 Jun 15; 461:123056.
Elias-Mas A, Wang JY, Rodríguez-Revenga L, Kim K, Tassone F, Hessl D, Rivera SM, Hagerman R. PMID: 38772058.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome. Ann Clin Transl Neurol. 2024 Jun; 11(6):1420-1429.
Yao PJ, Manolopoulos A, Eren E, Rivera SM, Hessl DR, Hagerman R, Martinez-Cerdeno V, Tassone F, Kapogiannis D. PMID: 38717724; PMCID: PMC11187838.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation. J Mol Diagn. 2024 Jun; 26(6):498-509.
Jiraanont P, Zafarullah M, Sulaiman N, Espinal GM, Randol JL, Durbin-Johnson B, Schneider A, Hagerman RJ, Hagerman PJ, Tassone F. PMID: 38522837.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome. Genes (Basel). 2024 03 13; 15(3).
Randol JL, Kim K, Ponzini MD, Tassone F, Falcon AK, Hagerman RJ, Hagerman PJ. PMID: 38540415; PMCID: PMC10969917.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome. Genes (Basel). 2024 03 03; 15(3).
Tak Y, Schneider A, Santos E, Randol JL, Tassone F, Hagerman P, Hagerman RJ. PMID: 38540390; PMCID: PMC10970065.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome. Metabolomics. 2024 Feb 28; 20(2):31.
Zafarullah M, Angkustsiri K, Quach A, Yeo S, Durbin-Johnson BP, Bowling H, Tassone F. PMID: 38418685; PMCID: PMC10901937.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Case Series: Vestibular Migraines in Fragile X Premutation Carriers. J Clin Med. 2024 Jan 16; 13(2).
Tak Y, Tassone F, Hagerman RJ. PMID: 38256638; PMCID: PMC10816080.
View in:
PubMed Mentions:
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FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study. Mov Disord. 2024 Mar; 39(3):519-525.
Hessl D, Mandujano Rojas K, Ferrer E, Espinal G, Famula J, Schneider A, Hagerman R, Tassone F, Rivera SM. PMID: 38124331; PMCID: PMC11268876.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS). Cells. 2023 12 05; 12(24).
Santos E, Clark C, Biag HMB, Tang SJ, Kim K, Ponzini MD, Schneider A, Giulivi C, Montanaro FAM, Gipe JT, Dayton J, Randol JL, Yao PJ, Manolopoulos A, Kapogiannis D, Hwang YH, Hagerman P, Hagerman R, Tassone F. PMID: 38132093; PMCID: PMC10741398.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023 09 21; 12(18).
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. PMID: 37759552; PMCID: PMC10529056.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansCells
-
Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity. Int J Dev Neurosci. 2023 Dec; 83(8):715-727.
Aishworiya R, Tak YE, Ponzini MD, Biag HMB, Salcedo-Arellano MJ, Kim K, Tassone F, Schneider A, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Lippe S, Hagerman P, Hagerman R. PMID: 37724826; PMCID: PMC10868665.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
A Longitudinal Study of Executive Function in Daily Life in Male Fragile X Premutation Carriers and Association with FXTAS Conversion. medRxiv. 2023 Sep 02.
Hessl D, Rojas KM, Ferrer E, Espinal G, Famula J, Schneider A, Elagerman R, Tassone F, Rivera SM. PMID: 37693384; PMCID: PMC10491369.
View in:
PubMed Mentions:
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Effects of AFQ056 on language learning in fragile X syndrome. J Clin Invest. 2023 Aug 31; 134(5).
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B, NeuroNEXT FXLEARN Investigators. PMID: 37651202; PMCID: PMC10904045.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansAnimals
-
Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS. Int J Mol Sci. 2023 Aug 30; 24(17).
Zafarullah M, Li J, Salemi MR, Phinney BS, Durbin-Johnson BP, Hagerman R, Hessl D, Rivera SM, Tassone F. PMID: 37686279; PMCID: PMC10488017.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cells. 2023 08 23; 12(17).
Salcedo-Arellano MJ, Johnson MD, McLennan YA, Hwang YH, Juarez P, McBride EL, Pantoja AP, Durbin-Johnson B, Tassone F, Hagerman RJ, Martínez-Cerdeño V. PMID: 37681866; PMCID: PMC10487256.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets. J Dev Behav Pediatr. 2023 09 01; 44(7):e470-e475.
Aishworiya R, Biag HMB, Salcedo-Arellano MJ, Musa Z, Schneider A, Clark C, Santos E, Tassone F, Hagerman R. PMID: 37556593; PMCID: PMC10527597.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome. Cells. 2023 07 24; 12(14).
Aishworiya R, Chi MH, Zafarullah M, Mendoza G, Ponzini MD, Kim K, Biag HMB, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Jacquemont S, Lippé S, Hagerman P, Hagerman R, Schneider A, Tassone F. PMID: 37508583; PMCID: PMC10377864.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells. 2023 06 24; 12(13).
Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. PMID: 37443745; PMCID: PMC10341054.
View in:
PubMed Mentions:
1 Fields:
Translation:
AnimalsCells
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Clinical implications of somatic allele expansion in female FMR1 premutation carriers. Sci Rep. 2023 04 29; 13(1):7050.
Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, Hagerman R, Tassone F. PMID: 37120588; PMCID: PMC10148869.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment. J Neurodev Disord. 2023 01 09; 15(1):1.
Palumbo JM, Thomas BF, Budimirovic D, Siegel S, Tassone F, Hagerman R, Faulk C, O'Quinn S, Sebree T. PMID: 36624400; PMCID: PMC9830713.
View in:
PubMed Mentions:
8 Fields:
Translation:
Humans
-
Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene. Mol Neurobiol. 2023 Apr; 60(4):2051-2061.
Zafarullah M, Li J, Tseng E, Tassone F. PMID: 36598648; PMCID: PMC10461537.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers. Genes (Basel). 2022 12 17; 13(12).
Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R. PMID: 36553666; PMCID: PMC9778214.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56.
Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. PMID: 36434514; PMCID: PMC9700889.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCellsCTClinical Trials
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Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome. Brain Sci. 2022 Nov 15; 12(11).
Hocking DR, Loesch DZ, Stimpson P, Tassone F, Atkinson A, Storey E. PMID: 36421873; PMCID: PMC9688438.
View in:
PubMed Mentions:
2
-
Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome. Genes (Basel). 2022 10 04; 13(10).
Jasoliya M, Gu J, AlOlaby RR, Durbin-Johnson B, Chedin F, Tassone F. PMID: 36292679; PMCID: PMC9602177.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022 09; 54(9):1320-1331.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. PMID: 35982160; PMCID: PMC9653013.
View in:
PubMed Mentions:
168 Fields:
Translation:
Humans
-
Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice. Genes (Basel). 2022 08 08; 13(8).
Varian BJ, Weber KT, Kim LJ, Chavarria TE, Carrasco SE, Muthupalani S, Poutahidis T, Zafarullah M, Al Olaby RR, Barboza M, Solakyildirim K, Lebrilla C, Tassone F, Wu F, Alm EJ, Erdman SE. PMID: 36011319; PMCID: PMC9407566.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansAnimalsCells
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Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome. BMJ Case Rep. 2022 Jul 26; 15(7).
Tassanakijpanich N, Wright R, Tassone F, Shankar SP, Hagerman R. PMID: 35882436; PMCID: PMC9330300.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri. Genes (Basel). 2022 07 22; 13(8).
AlOlaby RR, Zafarullah M, Barboza M, Peng G, Varian BJ, Erdman SE, Lebrilla C, Tassone F. PMID: 35893036; PMCID: PMC9331364.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
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Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Sci Rep. 2022 06 21; 12(1):10419.
Hwang YH, Hayward BE, Zafarullah M, Kumar J, Durbin Johnson B, Holmans P, Usdin K, Tassone F. PMID: 35729184; PMCID: PMC9213438.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
De Novo Large Deletion Leading to Fragile X Syndrome. Front Genet. 2022; 13:884424.
Jiraanont P, Manor E, Tabatadze N, Zafarullah M, Mendoza G, Melikishvili G, Tassone F. PMID: 35646065; PMCID: PMC9130735.
View in:
PubMed Mentions:
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Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression. Mov Disord Clin Pract. 2022 May; 9(4):473-478.
McLennan YA, Mosconi MW, McKenzie FJ, Famula J, Krawchuk B, Kim K, Clark CJ, Hessl D, Rivera SM, Simon TJ, Tassone F, Hagerman RJ. PMID: 35586536; PMCID: PMC9092736.
View in:
PubMed Mentions:
1 Fields:
-
Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2022 03 23; 14(1):23.
Famula J, Ferrer E, Hagerman RJ, Tassone F, Schneider A, Rivera SM, Hessl D. PMID: 35321639; PMCID: PMC8942145.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome. Front Psychiatry. 2022; 13:867000.
Proteau-Lemieux M, Knoth IS, Agbogba K, Côté V, Barlahan Biag HM, Thurman AJ, Martin CO, Bélanger AM, Rosenfelt C, Tassone F, Abbeduto LJ, Jacquemont S, Hagerman R, Bolduc F, Hessl D, Schneider A, Lippé S. PMID: 35280176; PMCID: PMC8908967.
View in:
PubMed Mentions:
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Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation. Front Neurol. 2022; 13:797649.
Wang JY, Grigsby J, Placido D, Wei H, Tassone F, Kim K, Hessl D, Rivera SM, Hagerman RJ. PMID: 35211082; PMCID: PMC8863211.
View in:
PubMed Mentions:
6
-
Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome. Front Psychiatry. 2021; 12:762915.
Johnson D, Santos E, Kim K, Ponzini MD, McLennan YA, Schneider A, Tassone F, Hagerman RJ. PMID: 35126193; PMCID: PMC8811376.
View in:
PubMed Mentions:
4
-
Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers. Front Psychiatry. 2021; 12:742929.
Hocking DR, Loesch DZ, Stimpson P, Tassone F, Atkinson A, Storey E. PMID: 34925088; PMCID: PMC8678043.
View in:
PubMed Mentions:
2
-
Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers. Front Psychiatry. 2021; 12:747268.
Loesch DZ, Kemp BE, Bui MQ, Fisher PR, Allan CY, Sanislav O, Ngoei KRW, Atkinson A, Tassone F, Annesley SJ, Storey E. PMID: 34880790; PMCID: PMC8645580.
View in:
PubMed Mentions:
4
-
EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome. Front Psychiatry. 2021; 12:716707.
Proteau-Lemieux M, Knoth IS, Agbogba K, Côté V, Barlahan Biag HM, Thurman AJ, Martin CO, Bélanger AM, Rosenfelt C, Tassone F, Abbeduto LJ, Jacquemont S, Hagerman R, Bolduc F, Hessl D, Schneider A, Lippé S. PMID: 34858220; PMCID: PMC8632368.
View in:
PubMed Mentions:
4
-
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability. Diagnostics (Basel). 2021 Sep 28; 11(10).
Roth M, Ronco L, Cadavid D, Durbin-Johnson B, Hagerman RJ, Tassone F. PMID: 34679478; PMCID: PMC8534530.
View in:
PubMed Mentions:
5
-
Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome. Front Neurosci. 2021; 15:720253.
Salcedo-Arellano MJ, Sanchez D, Wang JY, McLennan YA, Clark CJ, Juarez P, Schneider A, Tassone F, Hagerman RJ, Martínez-Cerdeño V. PMID: 34602969; PMCID: PMC8485779.
View in:
PubMed Mentions:
5
-
Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. Front Psychiatry. 2021; 12:691717.
Zafarullah M, Durbin-Johnson B, Fourie ES, Hessl DR, Rivera SM, Tassone F. PMID: 34483988; PMCID: PMC8415564.
View in:
PubMed Mentions:
2
-
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. J Med Genet. 2022 07; 59(7):687-690.
Tassanakijpanich N, McKenzie FJ, McLennan YA, Makhoul E, Tassone F, Jasoliya MJ, Romney C, Petrasic IC, Napalinga K, Buchanan CB, Hagerman P, Hagerman R, Casanova EL. PMID: 34193467; PMCID: PMC8717836.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways. Cerebellum Ataxias. 2021 Jun 11; 8(1):15.
Storey E, Bui MQ, Stimpson P, Tassone F, Atkinson A, Loesch DZ. PMID: 34116720; PMCID: PMC8196444.
View in:
PubMed Mentions:
11
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Mosaicism in Fragile X syndrome: A family case series. J Intellect Disabil. 2022 Sep; 26(3):800-807.
Saldarriaga W, González-Teshima LY, Forero-Forero JV, Tang HT, Tassone F. PMID: 33998336.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021 03; 21(3):255-267.
Berry-Kravis E, Zhou L, Jackson J, Tassone F. PMID: 33666525.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers. Twin Res Hum Genet. 2021 04; 24(2):95-102.
Loesch DZ, Duffy DL, Martin NG, Tassone F, Atkinson A, Storey E. PMID: 33757613.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome. Mov Disord. 2021 08; 36(8):1935-1943.
Salcedo-Arellano MJ, Wang JY, McLennan YA, Doan M, Cabal-Herrera AM, Jimenez S, Wolf-Ochoa MW, Sanchez D, Juarez P, Tassone F, Durbin-Johnson B, Hagerman RJ, Martínez-Cerdeño V. PMID: 33760253; PMCID: PMC10929604.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
-
Inequities in diagnosis of Fragile X syndrome in Colombia. J Appl Res Intellect Disabil. 2021 May; 34(3):830-839.
Saldarriaga-Gil W, Cabal-Herrera AM, Fandiño-Losada A, Vásquez A, Hagerman R, Tassone F. PMID: 33538083.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
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Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS. Free Radic Biol Med. 2021 03; 165:100-110.
Gohel D, Sripada L, Prajapati P, Currim F, Roy M, Singh K, Shinde A, Mane M, Kotadia D, Tassone F, Charlet-Berguerand N, Singh R. PMID: 33497798.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansAnimalsCells
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Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement. Front Mol Biosci. 2020; 7:577246.
Loesch DZ, Tassone F, Atkinson A, Stimpson P, Trost N, Pountney DL, Storey E. PMID: 33511153; PMCID: PMC7835843.
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PubMed Mentions:
10
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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. Am J Med Genet C Semin Med Genet. 2020 12; 184(4):1030-1041.
Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. PMID: 33274544; PMCID: PMC8683562.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. J Dev Behav Pediatr. 2020 12; 41(9):724-728.
Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. PMID: 32947579.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). FASEB J. 2020 12; 34(12):16676-16692.
Zafarullah M, Palczewski G, Rivera SM, Hessl DR, Tassone F. PMID: 33131090; PMCID: PMC7756608.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene. Front Mol Biosci. 2020; 7:578640.
Napoli E, McLennan YA, Schneider A, Tassone F, Hagerman RJ, Giulivi C. PMID: 33195422; PMCID: PMC7642626.
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PubMed Mentions:
9
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Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS). Cells. 2020 10 05; 9(10).
Zafarullah M, Jasoliya M, Tassone F. PMID: 33027907; PMCID: PMC7600987.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
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Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation. Sci Rep. 2020 09 29; 10(1):16059.
Wang JY, Danial M, Soleymanzadeh C, Kim B, Xia Y, Kim K, Tassone F, Hagerman RJ, Rivera SM. PMID: 32994518; PMCID: PMC7525519.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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View in:
PubMed Mentions:
13 Fields:
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The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS. Biochim Biophys Acta Mol Basis Dis. 2020 12 01; 1866(12):165918.
Gohel D, Berguerand NC, Tassone F, Singh R. PMID: 32800941.
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PubMed Mentions:
8 Fields:
Translation:
HumansAnimalsCells
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Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. Am J Hum Genet. 2020 09 03; 107(3):555-563.
Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S. PMID: 32758449; PMCID: PMC7477006.
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PubMed Mentions:
25 Fields:
Translation:
HumansCells
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FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS). Sci Rep. 2020 07 06; 10(1):11099.
Zafarullah M, Tang HT, Durbin-Johnson B, Fourie E, Hessl D, Rivera SM, Tassone F. PMID: 32632326; PMCID: PMC7338407.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations. Transl Psychiatry. 2020 06 23; 10(1):205.
Schneider A, Winarni TI, Cabal-Herrera AM, Bacalman S, Gane L, Hagerman P, Tassone F, Hagerman R. PMID: 32576818; PMCID: PMC7311546.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome. Brain Sci. 2020 Jun 10; 10(6).
Jasoliya M, Bowling H, Petrasic IC, Durbin-Johnson B, Klann E, Bhattacharya A, Hagerman R, Tassone F. PMID: 32531912; PMCID: PMC7349631.
View in:
PubMed Mentions:
2
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Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. J Neurodev Disord. 2020 04 22; 12(1):12.
Thurman AJ, Potter LA, Kim K, Tassone F, Banasik A, Potter SN, Bullard L, Nguyen V, McDuffie A, Hagerman R, Abbeduto L. PMID: 32316911; PMCID: PMC7175541.
View in:
PubMed Mentions:
31 Fields:
Translation:
Humans
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Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder. Front Genet. 2020; 11:308.
Alolaby RR, Jiraanont P, Durbin-Johnson B, Jasoliya M, Tang HT, Hagerman R, Tassone F. PMID: 32346385; PMCID: PMC7174723.
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PubMed Mentions:
1
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Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome. Mov Disord Clin Pract. 2020 May; 7(4):413-418.
Salcedo-Arellano MJ, Wolf-Ochoa MW, Hong T, Amina S, Tassone F, Lechpammer M, Hagerman R, Martínez-Cerdeño V. PMID: 32373658; PMCID: PMC7197312.
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PubMed Mentions:
8 Fields:
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Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. Clin Interv Aging. 2020; 15:285-292.
Aydin EY, Schneider A, Protic D, Wang JY, Martínez-Cerdeño V, Tassone F, Tang HT, Perlman S, Hagerman RJ. PMID: 32161452; PMCID: PMC7051898.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol Psychiatry. 2021 08; 26(8):4496-4510.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS. PMID: 32015465; PMCID: PMC7396297.
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PubMed Mentions:
48 Fields:
Translation:
Humans
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Developmental aspects of FXAND in a man with the FMR1 premutation. Mol Genet Genomic Med. 2020 02; 8(2):e1050.
Santos E, Emeka-Nwonovo C, Wang JY, Schneider A, Tassone F, Hagerman P, Hagerman R. PMID: 31899609; PMCID: PMC7005639.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. Am J Hum Genet. 2020 01 02; 106(1):26-40.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. PMID: 31870554; PMCID: PMC7077921.
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PubMed Mentions:
30 Fields:
Translation:
HumansCells
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A Randomized Controlled Trial of Sertraline in Young Children With Autism Spectrum Disorder. Front Psychiatry. 2019; 10:810.
Potter LA, Scholze DA, Biag HMB, Schneider A, Chen Y, Nguyen DV, Rajaratnam A, Rivera SM, Dwyer PS, Tassone F, Al Olaby RR, Choudhary NS, Salcedo-Arellano MJ, Hagerman RJ. PMID: 31780970; PMCID: PMC6851992.
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PubMed Mentions:
14
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Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles. Neurobiol Aging. 2020 02; 86:27-38.
Wang JY, Hessl D, Tassone F, Kim K, Hagerman RJ, Rivera SM. PMID: 31733943; PMCID: PMC6995416.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Metformin treatment in young children with fragile X syndrome. Mol Genet Genomic Med. 2019 11; 7(11):e956.
Biag HMB, Potter LA, Wilkins V, Afzal S, Rosvall A, Salcedo-Arellano MJ, Rajaratnam A, Manzano-Nunez R, Schneider A, Tassone F, Rivera SM, Hagerman RJ. PMID: 31520524; PMCID: PMC6825840.
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PubMed Mentions:
30 Fields:
Translation:
Humans
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The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity. Mol Genet Genomic Med. 2019 10; 7(10):e00946.
Manor E, Gonen R, Sarussi B, Keidar-Friedman D, Kumar J, Tang HT, Tassone F. PMID: 31453660; PMCID: PMC6785435.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation. Front Neurol. 2019; 10:832.
Hocking DR, Loesch DZ, Trost N, Bui MQ, Hammersley E, Francis D, Tassone F, Storey E. PMID: 31456732; PMCID: PMC6700239.
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PubMed Mentions:
13
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Fragile X- associated Neuropsychiatric Disorders: A Case Report. Future Neurol. 2019 May; 14(2).
Tan MM, Dy JB, Salcedo-Arellano MJ, Tassone F, Hagerman RJ. PMID: 32089651; PMCID: PMC7034938.
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PubMed Mentions:
3
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Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases. Mol Genet Genomic Med. 2019 07; 7(7):e00745.
Protic D, Aydin EY, Tassone F, Tan MM, Hagerman RJ, Schneider A. PMID: 31104364; PMCID: PMC6625129.
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PubMed Mentions:
19 Fields:
Translation:
Humans
-
Molecular Biomarkers in Fragile X Syndrome. Brain Sci. 2019 Apr 27; 9(5).
Zafarullah M, Tassone F. PMID: 31035599; PMCID: PMC6562871.
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PubMed Mentions:
16
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Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model. Brain Sci. 2019 Mar 01; 9(3).
Zhao X, Gazy I, Hayward B, Pintado E, Hwang YH, Tassone F, Usdin K. PMID: 30832215; PMCID: PMC6468611.
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PubMed Mentions:
15
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FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. Biochim Biophys Acta Mol Basis Dis. 2019 06 01; 1865(6):1379-1388.
Gohel D, Sripada L, Prajapati P, Singh K, Roy M, Kotadia D, Tassone F, Charlet-Berguerand N, Singh R. PMID: 30771487.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansAnimalsCells
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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Methods Mol Biol. 2019; 1942:173-189.
Zafarullah M, Tassone F. PMID: 30900185.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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Microglial cell activation and senescence are characteristic of the pathology FXTAS. Mov Disord. 2018 12; 33(12):1887-1894.
Martínez Cerdeño V, Hong T, Amina S, Lechpammer M, Ariza J, Tassone F, Noctor SC, Hagerman P, Hagerman R. PMID: 30537011; PMCID: PMC6413690.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers. Front Genet. 2018; 9:531.
Loesch DZ, Trost N, Bui MQ, Hammersley E, Lay ST, Annesley SJ, Sanislav O, Allan CY, Tassone F, Chen ZP, Ngoei KRW, Kemp BE, Francis D, Fisher PR, Storey E. PMID: 30483310; PMCID: PMC6241173.
View in:
PubMed Mentions:
7
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome. Hum Mol Genet. 2018 11 01; 27(21):3825.
Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C. PMID: 30107584; PMCID: PMC6196653.
View in:
PubMed Mentions:
13 Fields:
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Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia. Int J Dev Neurosci. 2019 Feb; 72:1-5.
Saldarriaga W, Salcedo-Arellano MJ, Rodriguez-Guerrero T, Ríos M, Fandiño-Losada A, Ramirez-Cheyne J, Lein PJ, Tassone F, Hagerman RJ. PMID: 30385191; PMCID: PMC6354926.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. Am J Med Genet A. 2018 10; 176(10):2172-2181.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE, International 22q11.2 Brain and Behavior Consortium. PMID: 30289625; PMCID: PMC6209529.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells
-
Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism. Front Genet. 2018; 9:327.
Wang XH, Yang JC, Soohoo R, Cotter D, Yuan M, Xia J, Yaqub S, Doty J, Niu YQ, Tassone F, Hagerman R, Zhang L, Olichney J. PMID: 30279697; PMCID: PMC6153313.
View in:
PubMed Mentions:
1
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Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. Am J Hum Genet. 2018 09 06; 103(3):457.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR, International 22q11.2 Brain and Behavior Consortium. PMID: 30193139; PMCID: PMC6128314.
View in:
PubMed Mentions:
1 Fields:
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Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study. Mol Neurobiol. 2019 May; 56(5):3702-3713.
Napoli E, Schneider A, Wang JY, Trivedi A, Carrillo NR, Tassone F, Rogawski M, Hagerman RJ, Giulivi C. PMID: 30187385; PMCID: PMC6401336.
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PubMed Mentions:
20 Fields:
Translation:
HumansCellsCTClinical Trials
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Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries. Cell. 2018 09 20; 175(1):224-238.e15.
Sun JH, Zhou L, Emerson DJ, Phyo SA, Titus KR, Gong W, Gilgenast TG, Beagan JA, Davidson BL, Tassone F, Phillips-Cremins JE. PMID: 30173918; PMCID: PMC6175607.
View in:
PubMed Mentions:
99 Fields:
Translation:
HumansCells
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Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins. Front Genet. 2018; 9:338.
Napoli E, Schneider A, Hagerman R, Song G, Wong S, Tassone F, Giulivi C. PMID: 30210529; PMCID: PMC6119880.
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PubMed Mentions:
12
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Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range. Front Genet. 2018; 9:344.
Klusek J, Porter A, Abbeduto L, Adayev T, Tassone F, Mailick MR, Glicksman A, Tonnsen BL, Roberts JE. PMID: 30197656; PMCID: PMC6118037.
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PubMed Mentions:
18
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Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers. Front Genet. 2018; 9:302.
Al Olaby RR, Tang HT, Durbin-Johnson B, Schneider A, Hessl D, Rivera SM, Tassone F. PMID: 30186307; PMCID: PMC6113865.
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PubMed Mentions:
4
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Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia. Front Neurol. 2018; 9:695.
Famula JL, McKenzie F, McLennan YA, Grigsby J, Tassone F, Hessl D, Rivera SM, Martinez-Cerdeno V, Hagerman RJ. PMID: 30186228; PMCID: PMC6113389.
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PubMed Mentions:
13
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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females. Mov Disord. 2018 07; 33(7):1178-1181.
Loesch DZ, Tassone F, Mellick GD, Horne M, Rubio JP, Bui MQ, Francis D, Storey E. PMID: 30153395; PMCID: PMC6116531.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Middle Cerebellar Peduncle Width-A Novel MRI Biomarker for FXTAS? Front Neurosci. 2018; 12:379.
Shelton AL, Wang JY, Fourie E, Tassone F, Chen A, Frizzi L, Hagerman RJ, Ferrer E, Hessl D, Rivera SM. PMID: 29988561; PMCID: PMC6026659.
View in:
PubMed Mentions:
12
-
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome. Hum Mol Genet. 2018 06 15; 27(12):2039-2051.
Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C. PMID: 29590342; PMCID: PMC5985734.
View in:
PubMed Mentions:
29 Fields:
Translation:
HumansAnimalsCells
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Fentanyl overdose in a female with the FMR1 premutation and FXTAS. J Mol Genet (Isleworth). 2018 Nov; 1(1).
El-Deeb M, Adams P, Schneider A, Salcedo-Arellano MJ, Tassone F, Hagerman R. PMID: 31032490; PMCID: PMC6482838.
View in:
PubMed Mentions:
7
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Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome? Mov Disord. 2018 04; 33(4):628-636.
Shickman R, Famula J, Tassone F, Leehey M, Ferrer E, Rivera SM, Hessl D. PMID: 29389022; PMCID: PMC5889332.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCells
-
Genetic cluster of fragile X syndrome in a Colombian district. J Hum Genet. 2018 Apr; 63(4):509-516.
Saldarriaga W, Forero-Forero JV, González-Teshima LY, Fandiño-Losada A, Isaza C, Tovar-Cuevas JR, Silva M, Choudhary NS, Tang HT, Aguilar-Gaxiola S, Hagerman RJ, Tassone F. PMID: 29379191.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansCellsPHPublic Health
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Sindrome X frágil en una Familia Colombiana. Iatreia. 2018 Jan 1; 31(1):76-85.
Saldarriaga-Gil SW, Hagerman HR, Salcedo SM, Tassone TF, Ramirez-Cheyne RJ, Silva SM. .
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Publisher Site Mentions:
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A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. Eur J Med Genet. 2018 Apr; 61(4):209-212.
Jensen M, Kooy RF, Simon TJ, Reyniers E, Girirajan S, Tassone F. PMID: 29191496; PMCID: PMC6991138.
View in:
PubMed Mentions:
13 Fields:
Translation:
Humans
-
Rare FMR1 gene mutations causing fragile X syndrome: A review. Am J Med Genet A. 2018 01; 176(1):11-18.
Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG. PMID: 29178241; PMCID: PMC6697153.
View in:
PubMed Mentions:
38 Fields:
Translation:
Humans
-
Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size? Front Genet. 2017; 8:158.
Manor E, Jabareen A, Magal N, Kofman A, Hagerman RJ, Tassone F. PMID: 29163631; PMCID: PMC5675867.
View in:
PubMed Mentions:
5
-
Size and methylation mosaicism in males with Fragile X syndrome. Expert Rev Mol Diagn. 2017 11; 17(11):1023-1032.
Jiraanont P, Kumar M, Tang HT, Espinal G, Hagerman PJ, Hagerman RJ, Chutabhakdikul N, Tassone F. PMID: 28929824; PMCID: PMC5924764.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCells
-
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017 Oct; 10(5).
Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawula W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE, International 22q11.2 Consortium/Brain and Behavior Consortium*. PMID: 29025761; PMCID: PMC5647121.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome. Neurotherapeutics. 2017 Oct; 14(4):1073-1083.
Wang JY, Trivedi AM, Carrillo NR, Yang J, Schneider A, Giulivi C, Adams P, Tassone F, Kim K, Rivera SM, Lubarr N, Wu CY, Irwin RW, Brinton RD, Olichney JM, Rogawski MA, Hagerman RJ. PMID: 28707277; PMCID: PMC5722761.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCTClinical Trials
-
Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065.
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. PMID: 28960184.
View in:
PubMed Mentions:
333 Fields:
Translation:
Humans
-
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. Am J Hum Genet. 2017 Oct 05; 101(4):616-622.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR, International 22q11.2 Brain and Behavior Consortium. PMID: 28965848; PMCID: PMC5630191.
View in:
PubMed Mentions:
5 Fields:
Translation:
Humans
-
Metformin as targeted treatment in fragile X syndrome. Clin Genet. 2018 02; 93(2):216-222.
Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. PMID: 28436599; PMCID: PMC6944702.
View in:
PubMed Mentions:
51 Fields:
Translation:
HumansAnimals
-
Altered expression of the FMR1 splicing variants landscape in premutation carriers. Biochim Biophys Acta Gene Regul Mech. 2017 Nov; 1860(11):1117-1126.
Tseng E, Tang HT, AlOlaby RR, Hickey L, Tassone F. PMID: 28888471; PMCID: PMC5933929.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. Croat Med J. 2017 Aug 31; 58(4):310-315.
Lechpammer M, Martínez Cerdeno V, Hunsaker MR, Hah M, Gonzales H, Tisch S, Joffe R, Pamphlett R, Tassone F, Hagerman PJ, Bolitho SJ, Hagerman RJ. PMID: 28857524; PMCID: PMC5577649.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
-
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. J Neurodev Disord. 2017 Aug 02; 9(1):26.
Ligsay A, Van Dijck A, Nguyen DV, Lozano R, Chen Y, Bickel ES, Hessl D, Schneider A, Angkustsiri K, Tassone F, Ceulemans B, Kooy RF, Hagerman RJ. PMID: 28764646; PMCID: PMC5540519.
View in:
PubMed Mentions:
31 Fields:
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Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017 09; 2(6):487-492.
Burris JL, Barry-Anwar RA, Sims RN, Hagerman RJ, Tassone F, Rivera SM. PMID: 29348038.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
Bailey DB, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A. PMID: 28814542.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansCellsPHPublic Health
-
Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety. J Neurodev Disord. 2017; 9:16.
Klusek J, LaFauci G, Adayev T, Brown WT, Tassone F, Roberts JE. PMID: 28469730; PMCID: PMC5414146.
View in:
PubMed Mentions:
11 Fields:
-
Clinical and molecular correlates in fragile X premutation females. eNeurologicalSci. 2017 Jun; 7:49-56.
Jiraanont P, Sweha SR, AlOlaby RR, Silva M, Tang HT, Durbin-Johnson B, Schneider A, Espinal GM, Hagerman PJ, Rivera SM, Hessl D, Hagerman RJ, Chutabhakdikul N, Tassone F. PMID: 28971146; PMCID: PMC5621595.
View in:
PubMed Mentions:
7
-
Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation. Neurobiol Aging. 2017 07; 55:11-19.
Wang JY, Hessl D, Hagerman RJ, Simon TJ, Tassone F, Ferrer E, Rivera SM. PMID: 28391068; PMCID: PMC5498112.
View in:
PubMed Mentions:
33 Fields:
Translation:
HumansCells
-
Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome. Brain. 2017 03 01; 140(3):582-598.
Boland MJ, Nazor KL, Tran HT, Szücs A, Lynch CL, Paredes R, Tassone F, Sanna PP, Hagerman RJ, Loring JF. PMID: 28137726; PMCID: PMC5837342.
View in:
PubMed Mentions:
38 Fields:
Translation:
HumansAnimalsCells
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Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome. Brain Dev. 2017 Jun; 39(6):483-492.
AlOlaby RR, Sweha SR, Silva M, Durbin-Johnson B, Yrigollen CM, Pretto D, Hagerman RJ, Tassone F. PMID: 28242040; PMCID: PMC5420478.
View in:
PubMed Mentions:
20 Fields:
Translation:
Humans
-
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. Neuron. 2017 Jan 18; 93(2):331-347.
Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. PMID: 28065649; PMCID: PMC5263258.
View in:
PubMed Mentions:
118 Fields:
Translation:
HumansAnimalsCells
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Developmental profiles of infants with an FMR1 premutation. J Neurodev Disord. 2016; 8:40.
Wheeler AC, Sideris J, Hagerman R, Berry-Kravis E, Tassone F, Bailey DB. PMID: 27822316; PMCID: PMC5095966.
View in:
PubMed Mentions:
15 Fields:
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. PMID: 27372099.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansCells
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Aging in Fragile X Premutation Carriers. Cerebellum. 2016 10; 15(5):587-94.
Lozano R, Saito N, Reed D, Eldeeb M, Schneider A, Hessl D, Tassone F, Beckett L, Hagerman R. PMID: 27334385; PMCID: PMC8020959.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity. Dis Model Mech. 2016 11 01; 9(11):1295-1305.
Annesley SJ, Lay ST, De Piazza SW, Sanislav O, Hammersley E, Allan CY, Francione LM, Bui MQ, Chen ZP, Ngoei KR, Tassone F, Kemp BE, Storey E, Evans A, Loesch DZ, Fisher PR. PMID: 27638668; PMCID: PMC5117226.
View in:
PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2016 12; 171(8):1139-1147.
Gossett A, Sansone S, Schneider A, Johnston C, Hagerman R, Tassone F, Rivera SM, Seritan AL, Hessl D. PMID: 27615674; PMCID: PMC6907071.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. Neurodegener Dis. 2017; 17(1):22-30.
Loesch DZ, Annesley SJ, Trost N, Bui MQ, Lay ST, Storey E, De Piazza SW, Sanislav O, Francione LM, Hammersley EM, Tassone F, Francis D, Fisher PR. PMID: 27602566; PMCID: PMC10964908.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansCells
-
Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation. Biochem J. 2016 11 01; 473(21):3871-3888.
Giulivi C, Napoli E, Tassone F, Halmai J, Hagerman R. PMID: 27555610; PMCID: PMC7014977.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansCells
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Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome. Eur J Med Genet. 2016 Sep; 59(9):459-62.
Jiraanont P, Hagerman RJ, Neri G, Zollino M, Murdolo M, Tassone F. PMID: 27546052.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. Front Mol Neurosci. 2016; 9:71.
Giulivi C, Napoli E, Tassone F, Halmai J, Hagerman R. PMID: 27570505; PMCID: PMC4981605.
View in:
PubMed Mentions:
18
-
Alcohol use dependence in fragile X syndrome. Intractable Rare Dis Res. 2016 Aug; 5(3):207-13.
Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W. PMID: 27672544; PMCID: PMC4995423.
View in:
PubMed Mentions:
6
-
Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report. J Appl Res Intellect Disabil. 2017 Sep; 30(5):970-974.
Saldarriaga W, Ruiz FA, Tassone F, Hagerman R. PMID: 27456465.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis. J Genet Disord Genet Rep. 2016; 5(3).
Yrigollen CM, Pacini L, Nobile V, Lozano R, Hagerman RJ, Bagni C, Tassone F. PMID: 28232951; PMCID: PMC5319728.
View in:
PubMed Mentions:
1
-
Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. Mol Med. 2016 Oct; 22:548-559.
Song G, Napoli E, Wong S, Hagerman R, Liu S, Tassone F, Giulivi C. PMID: 27385396; PMCID: PMC5082295.
View in:
PubMed Mentions:
41 Fields:
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Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation. Clin Neuropsychol. 2016 08; 30(6):929-43.
Schneider A, Johnston C, Tassone F, Sansone S, Hagerman RJ, Ferrer E, Rivera SM, Hessl D. PMID: 27355445; PMCID: PMC5004987.
View in:
PubMed Mentions:
26 Fields:
Translation:
Humans
-
Warburg effect linked to cognitive-executive deficits in FMR1 premutation. FASEB J. 2016 10; 30(10):3334-3351.
Napoli E, Song G, Schneider A, Hagerman R, Eldeeb MA, Azarang A, Tassone F, Giulivi C. PMID: 27335370; PMCID: PMC5024697.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansCells
-
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons. Proc Natl Acad Sci U S A. 2016 06 28; 113(26):E3619-28.
Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E, Krezel W, Alunni V, Koebel P, Dembélé D, Tassone F, Bardoni B, Mandel JL, Vitale N, Muller D, Le Merrer J, Moine H. PMID: 27233938; PMCID: PMC4932937.
View in:
PubMed Mentions:
44 Fields:
Translation:
HumansAnimalsCells
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Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. Front Neurosci. 2016; 10:159.
Napoli E, Ross-Inta C, Song G, Wong S, Hagerman R, Gane LW, Smilowitz JT, Tassone F, Giulivi C. PMID: 27147951; PMCID: PMC4835505.
View in:
PubMed Mentions:
22
-
Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study. Pediatrics. 2016 04; 137(4).
Wong S, Napoli E, Krakowiak P, Tassone F, Hertz-Picciotto I, Giulivi C. PMID: 27033107; PMCID: PMC4811307.
View in:
PubMed Mentions:
12 Fields:
Translation:
Humans
-
Finding FMR1 mosaicism in Fragile X syndrome. Expert Rev Mol Diagn. 2016; 16(4):501-7.
Gonçalves TF, dos Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Pimentel MM, Santos-Rebouças CB. PMID: 26716517; PMCID: PMC4956488.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansCells
-
Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology. 2016 Mar; 53:141-147.
Saldarriaga W, Lein P, González Teshima LY, Isaza C, Rosa L, Polyak A, Hagerman R, Girirajan S, Silva M, Tassone F. PMID: 26802682; PMCID: PMC4808401.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCells
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The Molecular Biology of Premutation Expanded Alleles. . 2016 Jan 1; 101-127.
Tassone TF, Sellier SC, Charlet-Berguerand CN, Todd TP. .
View in:
Publisher Site Mentions:
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Genotype/Phenotype Relationships in FXTAS. . 2016 Jan 1; 129-160.
Allen AE, Leehey LM, Tassone TF, Sherman SS. .
View in:
Publisher Site Mentions:
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The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery. Stem Cells Transl Med. 2015 Nov; 4(11):1369.
Brick DJ, Nethercott HE, Montesano S, Banuelos MG, Stover AE, Schutte SS, O'Dowd DK, Hagerman RJ, Ono M, Hessl DR, Tassone F, Schwartz PH. PMID: 26508786; PMCID: PMC4622400.
View in:
PubMed Mentions: Fields:
-
Identification of a male with fragile X syndrome through newborn screening. Intractable Rare Dis Res. 2015 Nov; 4(4):198-202.
Famula J, Basuta K, Gane LW, Hagerman RJ, Tassone F. PMID: 26668780; PMCID: PMC4660861.
View in:
PubMed Mentions:
3
-
Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn. 2015; 15(11):1465-73.
Tassone F. PMID: 26489042; PMCID: PMC4955806.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCellsPHPublic Health
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Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome. Muscle Nerve. 2015 Aug; 52(2):234-9.
Ram S, Devapriya IA, Fenton G, Mcvay L, Nguyen DV, Tassone F, Maselli RA, Hagerman RJ. PMID: 25388402; PMCID: PMC4427531.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable Rare Dis Res. 2015 Aug; 4(3):123-30.
Cordeiro L, Abucayan F, Hagerman R, Tassone F, Hessl D. PMID: 26361563; PMCID: PMC4561241.
View in:
PubMed Mentions:
27
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Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to SynapticDeficits in Fragile X Syndrome. Neuron. 2015 Aug 1; 87(4):908.
Pasciuto PE, Ahmed AT, Wahle WT, Gardoni GF, D’Andrea DL, Pacini PL, Jacquemont JS, Tassone TF, Balschun BD, Dotti DC, Callaerts-Vegh CZ, D’Hooge DR, Müller MU, Di Luca DM, De Strooper DB, Bagni BC. .
View in:
Publisher Site Mentions:
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Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome. J Biol Chem. 2015 Sep 18; 290(38):23240-53.
Napoli E, Tassone F, Wong S, Angkustsiri K, Simon TJ, Song G, Giulivi C. PMID: 26221035; PMCID: PMC4645608.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansCells
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Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome. Neuron. 2015 Jul 15; 87(2):382-98.
Pasciuto E, Ahmed T, Wahle T, Gardoni F, D'Andrea L, Pacini L, Jacquemont S, Tassone F, Balschun D, Dotti CG, Callaerts-Vegh Z, D'Hooge R, Müller UC, Di Luca M, De Strooper B, Bagni C. PMID: 26182420.
View in:
PubMed Mentions:
39 Fields:
Translation:
HumansAnimalsCells
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J. PMID: 26169437; PMCID: PMC4516945.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansPHPublic Health
-
Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study. Early Hum Dev. 2015 Aug; 91(8):483-9.
Schmidt RJ, Hansen RL, Hartiala J, Allayee H, Sconberg JL, Schmidt LC, Volk HE, Tassone F. PMID: 26073892; PMCID: PMC4871694.
View in:
PubMed Mentions:
29 Fields:
Translation:
Humans
-
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. Am J Med Genet A. 2015 Sep; 167A(9):2154-61.
Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F. PMID: 25920745.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Methadone use in a male with the FMRI premutation and FXTAS. Am J Med Genet A. 2015 Jun; 167(6):1354-9.
Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ. PMID: 25900641; PMCID: PMC4845901.
View in:
PubMed Mentions:
18 Fields:
Translation:
Humans
-
Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan. PLoS One. 2015; 10(4):e0122213.
Kanwal M, Alyas S, Afzal M, Mansoor A, Abbasi R, Tassone F, Malik S, Mazhar K. PMID: 25875842; PMCID: PMC4396850.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls. Front Hum Neurosci. 2015; 9:37.
Wong LM, Tassone F, Rivera SM, Simon TJ. PMID: 25698960; PMCID: PMC4318336.
View in:
PubMed Mentions:
1
-
Fragile X syndrome. Colomb Med (Cali). 2014 Oct-Dec; 45(4):190-8.
Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. PMID: 25767309; PMCID: PMC4350386.
View in:
PubMed Mentions:
66 Fields:
Translation:
HumansAnimalsCells
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A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation. J Neurodev Disord. 2014; 6(1):45.
Wong LM, Goodrich-Hunsaker NJ, McLennan YA, Tassone F, Rivera SM, Simon TJ. PMID: 25937844; PMCID: PMC4416306.
View in:
PubMed Mentions: Fields:
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Immune mediated disorders in women with a fragile X expansion and FXTAS. Am J Med Genet A. 2015 Jan; 167A(1):190-7.
Jalnapurkar I, Rafika N, Tassone F, Hagerman R. PMID: 25399540; PMCID: PMC4275322.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR. Clin Chem. 2015 Jan; 61(1):182-90.
Pretto D, Maar D, Yrigollen CM, Regan J, Tassone F. PMID: 25388430.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCells
-
Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res. 2014 Nov; 3(4):153-61.
Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F. PMID: 25606365; PMCID: PMC4298645.
View in:
PubMed Mentions:
10
-
Parent-delivered touchscreen intervention for children with fragile X syndrome. Intractable Rare Dis Res. 2014 Nov; 3(4):166-77.
Díez-Juan M, Schneider A, Phillips T, Lozano R, Tassone F, Solomon M, Hagerman RJ. PMID: 25606367; PMCID: PMC4298647.
View in:
PubMed Mentions:
6
-
Differential increases of specific FMR1 mRNA isoforms in premutation carriers. J Med Genet. 2015 Jan; 52(1):42-52.
Pretto DI, Eid JS, Yrigollen CM, Tang HT, Loomis EW, Raske C, Durbin-Johnson B, Hagerman PJ, Tassone F. PMID: 25358671; PMCID: PMC4394606.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
-
Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR. BMC Med Genet. 2014 Oct 14; 15:106.
Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F. PMID: 25312060; PMCID: PMC4258952.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery. Stem Cells Transl Med. 2014 Nov; 3(11):1275-86.
Brick DJ, Nethercott HE, Montesano S, Banuelos MG, Stover AE, Schutte SS, O'Dowd DK, Hagerman RJ, Ono M, Hessl DR, Tassone F, Schwartz PH. PMID: 25273538; PMCID: PMC4214842.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCellsCTClinical Trials
-
Clinical and molecular implications of mosaicism in FMR1 full mutations. Front Genet. 2014; 5:318.
Pretto D, Yrigollen CM, Tang HT, Williamson J, Espinal G, Iwahashi CK, Durbin-Johnson B, Hagerman RJ, Hagerman PJ, Tassone F. PMID: 25278957; PMCID: PMC4166380.
View in:
PubMed Mentions:
59
-
Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome. PLoS One. 2014; 9(8):e103884.
Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F. PMID: 25084529; PMCID: PMC4118991.
View in:
PubMed Mentions:
38 Fields:
Translation:
HumansCells
-
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014; 6(1):23.
Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. PMID: 25161746; PMCID: PMC4144988.
View in:
PubMed Mentions:
23 Fields:
-
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014; 6(1):24.
Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. PMID: 25110527; PMCID: PMC4126815.
View in:
PubMed Mentions:
52 Fields:
-
View in:
PubMed Mentions:
11 Fields:
-
Genomic studies in fragile X premutation carriers. J Neurodev Disord. 2014; 6(1):27.
Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. PMID: 25170347; PMCID: PMC4147387.
View in:
PubMed Mentions:
14 Fields:
-
Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome. J Neuroinflammation. 2014 Jun 19; 11:110.
Careaga M, Noyon T, Basuta K, Van de Water J, Tassone F, Hagerman RJ, Ashwood P. PMID: 24942544; PMCID: PMC4107617.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
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The development of cognitive control in children with chromosome 22q11.2 deletion syndrome. Front Psychol. 2014; 5:566.
Shapiro HM, Tassone F, Choudhary NS, Simon TJ. PMID: 24959159; PMCID: PMC4050531.
View in:
PubMed Mentions:
28
-
Association between macroorchidism and intelligence in FMR1 premutation carriers. Am J Med Genet A. 2014 Sep; 164A(9):2206-11.
Lozano R, Summers S, Lozano C, Mu Y, Hessl D, Nguyen D, Tassone F, Hagerman R. PMID: 24903624; PMCID: PMC4332881.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Methylation analysis in newborn screening for fragile X syndrome--reply. JAMA Neurol. 2014 Jun; 71(6):800-1.
Tassone F. PMID: 24911127.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansPHPublic Health
-
Staged transthoracic approach to persistent atrial fibrillation (TOP-AF): study protocol for a randomized trial. Trials. 2014 May 26; 15:190.
Pragliola C, Mastroroberto P, Gaudino M, Chello M, Covino E. PMID: 24885377; PMCID: PMC4066274.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology. 2014 Jul; 28(4):571-584.
Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Zhang M, Rivera SM, Simon TJ. PMID: 24773414; PMCID: PMC4172343.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. PLoS One. 2014; 9(4):e94475.
Careaga M, Rose D, Tassone F, Berman RF, Hagerman R, Ashwood P. PMID: 24718368; PMCID: PMC3981824.
View in:
PubMed Mentions:
19 Fields:
Translation:
HumansAnimalsCells
-
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. J Med Genet. 2014 May; 51(5):309-18.
Pretto DI, Mendoza-Morales G, Lo J, Cao R, Hadd A, Latham GJ, Durbin-Johnson B, Hagerman R, Tassone F. PMID: 24591415; PMCID: PMC4010431.
View in:
PubMed Mentions:
48 Fields:
Translation:
HumansCells
-
Newborn screening for fragile X syndrome. JAMA Neurol. 2014 Mar; 71(3):355-9.
Tassone F. PMID: 24395328; PMCID: PMC4004956.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansPHPublic Health
-
Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. J Clin Psychiatry. 2014 Mar; 75(3):264-71.
Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell JB, Cook KR, Leehey MA, Grigsby J, Olichney JM, Adams PE, Legg W, Zhang L, Hagerman PJ, Hagerman RJ. PMID: 24345444; PMCID: PMC4296896.
View in:
PubMed Mentions:
26 Fields:
Translation:
Humans
-
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. Clin Genet. 2015 Feb; 87(2):173-8.
Loesch DZ, Bui MQ, Hammersley E, Schneider A, Storey E, Stimpson P, Burgess T, Francis D, Slater H, Tassone F, Hagerman RJ, Hessl D. PMID: 24428240; PMCID: PMC4115039.
View in:
PubMed Mentions:
25 Fields:
Translation:
HumansCells
-
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet. 2014 Jun 15; 23(12):3228-38.
Ludwig AL, Espinal GM, Pretto DI, Jamal AL, Arque G, Tassone F, Berman RF, Hagerman PJ. PMID: 24463622; PMCID: PMC4030777.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansAnimalsCells
-
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. Parkinsonism Relat Disord. 2014 Apr; 20(4):456-9.
Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L. PMID: 24491663; PMCID: PMC4019503.
View in:
PubMed Mentions:
24 Fields:
Translation:
Humans
-
Altered neural activity in the 'when' pathway during temporal processing in fragile X premutation carriers. Behav Brain Res. 2014 Mar 15; 261:240-8.
Kim SY, Tassone F, Simon TJ, Rivera SM. PMID: 24398265; PMCID: PMC4867552.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
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A Role for MSH2 in the CGG Repeat Expansion. Human Mutation. 2014 Jan 1; 35(1):v-v.
Tassone TF. .
View in:
Publisher Site Mentions:
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Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome. Neurobiol Aging. 2014 May; 35(5):1189-97.
Pretto DI, Kumar M, Cao Z, Cunningham CL, Durbin-Johnson B, Qi L, Berman R, Noctor SC, Hagerman RJ, Pessah IN, Tassone F. PMID: 24332449; PMCID: PMC4062976.
View in:
PubMed Mentions:
21 Fields:
Translation:
Humans
-
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet. 2014 Oct; 86(4):378-82.
Santa María L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Mendoza-Morales G, Hagerman R, Tassone F. PMID: 24028275; PMCID: PMC4004716.
View in:
PubMed Mentions:
32 Fields:
Translation:
HumansCells
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Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population. BMJ Open. 2013 Sep 10; 3(9):e003660.
Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S. PMID: 24022395; PMCID: PMC3773647.
View in:
PubMed Mentions:
8 Fields:
-
Altered neural activity of magnitude estimation processing in adults with the fragile X premutation. J Psychiatr Res. 2013 Dec; 47(12):1909-16.
Kim SY, Hashimoto R, Tassone F, Simon TJ, Rivera SM. PMID: 24045061; PMCID: PMC3880247.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA Neurol. 2013 Aug; 70(8):1022-9.
Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM. PMID: 23753897; PMCID: PMC4028037.
View in:
PubMed Mentions:
37 Fields:
Translation:
HumansCells
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Phenotypes of hypofrontality in older female fragile X premutation carriers. Ann Neurol. 2013 Aug; 74(2):275-83.
Yang JC, Simon C, Niu YQ, Bogost M, Schneider A, Tassone F, Seritan A, Grigsby J, Hagerman PJ, Hagerman RJ, Olichney JM. PMID: 23686745; PMCID: PMC3906211.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
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A family with two female siblings with compound heterozygous FMR1 premutation alleles. Clin Genet. 2014 May; 85(5):458-63.
Basuta K, Lozano R, Schneider A, Yrigollen CM, Hessl D, Hagerman RJ, Tassone F. PMID: 23786467; PMCID: PMC3996450.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
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High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. Am J Med Genet A. 2013 Aug; 161A(8):1897-903.
Dziembowska M, Pretto DI, Janusz A, Kaczmarek L, Leigh MJ, Gabriel N, Durbin-Johnson B, Hagerman RJ, Tassone F. PMID: 23824974.
View in:
PubMed Mentions:
84 Fields:
Translation:
HumansAnimalsCells
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Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions. J Hum Genet. 2013 Aug; 58(8):553-9.
Yrigollen CM, Mendoza-Morales G, Hagerman R, Tassone F. PMID: 23739124; PMCID: PMC4003888.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCellsPHPublic Health
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Intranuclear inclusions in a fragile X mosaic male. Transl Neurodegener. 2013 May 21; 2(1):10.
Pretto DI, Hunsaker MR, Cunningham CL, Greco CM, Hagerman RJ, Noctor SC, Hall DA, Hagerman PJ, Tassone F. PMID: 23692864; PMCID: PMC3668897.
View in:
PubMed Mentions:
25 Fields:
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Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem. 2013 May 10; 288(19):13831-41.
Cao Z, Hulsizer S, Cui Y, Pretto DL, Kim KH, Hagerman PJ, Tassone F, Pessah IN. PMID: 23553633; PMCID: PMC3650419.
View in:
PubMed Mentions:
32 Fields:
Translation:
AnimalsCells
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A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr. 2013 Apr; 34(3):147-55.
Leigh MJ, Nguyen DV, Mu Y, Winarni TI, Schneider A, Chechi T, Polussa J, Doucet P, Tassone F, Rivera SM, Hessl D, Hagerman RJ. PMID: 23572165; PMCID: PMC3706260.
View in:
PubMed Mentions:
104 Fields:
Translation:
Humans
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Global increases in both common and rare copy number load associated with autism. Hum Mol Genet. 2013 Jul 15; 22(14):2870-80.
Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB. PMID: 23535821; PMCID: PMC3690969.
View in:
PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep. 2013 Mar 28; 3(3):869-80.
Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. PMID: 23478018; PMCID: PMC3639429.
View in:
PubMed Mentions:
141 Fields:
Translation:
HumansAnimalsCells
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Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study. J Autism Dev Disord. 2013 Mar; 43(3):530-9.
Tassone F, Choudhary NS, Tassone F, Durbin-Johnson B, Hansen R, Hertz-Picciotto I, Pessah I. PMID: 22767137; PMCID: PMC4596818.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013 Apr; 161A(4):771-8.
Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. PMID: 23444167; PMCID: PMC4396070.
View in:
PubMed Mentions:
63 Fields:
Translation:
HumansCells
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Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet. 2013 Dec; 84(6):546-51.
Au J, Akins RS, Berkowitz-Sutherland L, Tang HT, Chen Y, Boyd A, Tassone F, Nguyen DV, Hagerman R. PMID: 23373759; PMCID: PMC4991825.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansCells
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Psychiatric features in high-functioning adult brothers with fragile x spectrum disorders. Prim Care Companion CNS Disord. 2013; 15(2).
Schneider A, Seritan A, Tassone F, Rivera SM, Hagerman R, Hessl D. PMID: 23930232; PMCID: PMC3733525.
View in:
PubMed Mentions:
8 Fields:
-
New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clin Genet. 2013 Oct; 84(4):382-5.
Loesch DZ, Tassone F, Lo J, Slater HR, Hills LV, Bui MQ, Silburn PA, Mellick GD. PMID: 23198693.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
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FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012; 4(12):100.
Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. PMID: 23259642; PMCID: PMC4064316.
View in:
PubMed Mentions:
174 Fields:
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Newborn screening and cascade testing for FMR1 mutations. Am J Med Genet A. 2013 Jan; 161A(1):59-69.
Sorensen PL, Gane LW, Yarborough M, Hagerman RJ, Tassone F. PMID: 23239591; PMCID: PMC3980469.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansPHPublic Health
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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012 Dec; 122(12):4314-22.
Bagni C, Tassone F, Neri G, Hagerman R. PMID: 23202739; PMCID: PMC3533539.
View in:
PubMed Mentions:
160 Fields:
Translation:
HumansAnimalsCells
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Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed. J Neurodev Disord. 2012 Nov 13; 4(1):26.
Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. PMID: 23148490; PMCID: PMC3506571.
View in:
PubMed Mentions:
10 Fields:
-
Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene. Cereb Cortex. 2014 Mar; 24(3):600-13.
Kim SY, Burris J, Bassal F, Koldewyn K, Chattarji S, Tassone F, Hessl D, Rivera SM. PMID: 23146966; PMCID: PMC3920763.
View in:
PubMed Mentions:
19 Fields:
Translation:
HumansCells
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Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. PMID: 23129072.
View in:
PubMed Mentions:
20 Fields:
Translation:
HumansAnimalsCellsPHPublic Health
-
Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding. Front Hum Neurosci. 2012; 6:297.
Wang JM, Koldewyn K, Hashimoto R, Schneider A, Le L, Tassone F, Cheung K, Hagerman P, Hessl D, Rivera SM. PMID: 23115550; PMCID: PMC3483622.
View in:
PubMed Mentions:
17
-
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet. 2013 Jul; 84(1):74-7.
Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. PMID: 23009394; PMCID: PMC4991824.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansCells
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Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res. 2013 Jan; 23(1):121-8.
Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ. PMID: 23064752; PMCID: PMC3530672.
View in:
PubMed Mentions:
98 Fields:
Translation:
HumansCells
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Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem. 2012 Nov; 123(4):613-21.
Kaplan ES, Cao Z, Hulsizer S, Tassone F, Berman RF, Hagerman PJ, Pessah IN. PMID: 22924671; PMCID: PMC3564636.
View in:
PubMed Mentions:
52 Fields:
Translation:
HumansAnimalsCells
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Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. Cereb Cortex. 2013 Nov; 23(11):2657-66.
Yang JC, Chan SH, Khan S, Schneider A, Nanakul R, Teichholtz S, Niu YQ, Seritan A, Tassone F, Grigsby J, Hagerman PJ, Hagerman RJ, Olichney JM. PMID: 22918986; PMCID: PMC3792740.
View in:
PubMed Mentions:
24 Fields:
Translation:
Humans
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Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012 Oct; 158A(10):2473-81.
Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, Nguyen DV, Faradz SM, Van de Water J, Cook K, Hamlin A, Mu Y, Hagerman PJ, Hagerman RJ. PMID: 22903889; PMCID: PMC4105154.
View in:
PubMed Mentions:
57 Fields:
Translation:
HumansCells
-
View in:
PubMed Mentions:
163 Fields:
Translation:
Humans
-
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. Eur J Hum Genet. 2012 Nov; 20(11):1197-200.
Vengoechea J, Parikh AS, Zhang S, Tassone F. PMID: 22549406; PMCID: PMC3476717.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A. 2012 Jun; 158A(6):1304-9.
Hamlin AA, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ. PMID: 22528549; PMCID: PMC3983689.
View in:
PubMed Mentions:
32 Fields:
Translation:
Humans
-
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug; 14(8):729-36.
Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F. PMID: 22498846; PMCID: PMC3990283.
View in:
PubMed Mentions:
96 Fields:
Translation:
HumansCells
-
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male. Am J Med Genet A. 2012 May; 158A(5):1221-4.
Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F. PMID: 22488807; PMCID: PMC3331966.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Reduced telomere length in individuals with FMR1 premutations and full mutations. Am J Med Genet A. 2012 May; 158A(5):1060-5.
Jenkins EC, Tassone F, Ye L, Hoogeveen AT, Brown WT, Hagerman RJ, Hagerman PJ. PMID: 22489017; PMCID: PMC3402180.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav. 2012 Jul; 11(5):577-85.
Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ, Hagerman RJ. PMID: 22463693; PMCID: PMC3965773.
View in:
PubMed Mentions:
74 Fields:
Translation:
HumansCells
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Age-dependent structural connectivity effects in fragile x premutation. Arch Neurol. 2012 Apr; 69(4):482-9.
Wang JY, Hessl DH, Hagerman RJ, Tassone F, Rivera SM. PMID: 22491193; PMCID: PMC3979438.
View in:
PubMed Mentions:
39 Fields:
Translation:
HumansCells
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Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet. 2012 Jul 01; 21(13):2923-35.
Cao Z, Hulsizer S, Tassone F, Tang HT, Hagerman RJ, Rogawski MA, Hagerman PJ, Pessah IN. PMID: 22466801; PMCID: PMC3373240.
View in:
PubMed Mentions:
68 Fields:
Translation:
AnimalsCells
-
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav. 2012 Apr; 11(3):332-41.
Hoeffer CA, Sanchez E, Hagerman RJ, Mu Y, Nguyen DV, Wong H, Whelan AM, Zukin RS, Klann E, Tassone F. PMID: 22268788; PMCID: PMC3319643.
View in:
PubMed Mentions:
114 Fields:
Translation:
HumansCells
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The fragile X-associated tremor ataxia syndrome. Results Probl Cell Differ. 2012; 54:337-57.
Tassone F, Hagerman R. PMID: 22009361.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
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Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord. 2012 Feb; 27(2):296-300.
Hall D, Tassone F, Klepitskaya O, Leehey M. PMID: 22161987; PMCID: PMC4286243.
View in:
PubMed Mentions:
48 Fields:
Translation:
HumansCells
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Investigation of amygdala volume in men with the fragile X premutation. Brain Imaging Behav. 2011 Dec; 5(4):285-94.
Selmeczy D, Koldewyn K, Wang JM, Lee A, Harvey D, Hessl DR, Tassone F, Adams P, Hagerman RJ, Hagerman PJ, Rivera SM. PMID: 21786216; PMCID: PMC3982607.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet. 2012 Apr; 131(4):581-9.
Chonchaiya W, Au J, Schneider A, Hessl D, Harris SW, Laird M, Mu Y, Tassone F, Nguyen DV, Hagerman RJ. PMID: 22001913; PMCID: PMC4105134.
View in:
PubMed Mentions:
75 Fields:
Translation:
HumansCells
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Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening. Genet Test Mol Biomarkers. 2012 Mar; 16(3):162-6.
Winarni TI, Utari A, Mundhofir FE, Tong T, Durbin-Johnson B, Faradz SM, Tassone F. PMID: 21988366; PMCID: PMC3306584.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Sleep apnea in fragile X premutation carriers with and without FXTAS. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec; 156B(8):923-8.
Hamlin A, Liu Y, Nguyen DV, Tassone F, Zhang L, Hagerman RJ. PMID: 21932336; PMCID: PMC4109408.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansCells
-
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. Rheumatology (Oxford). 2011 Dec; 50(12):2233-6.
Leehey MA, Legg W, Tassone F, Hagerman R. PMID: 21926154; PMCID: PMC3222847.
View in:
PubMed Mentions:
34 Fields:
Translation:
Humans
-
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome. PLoS One. 2011; 6(8):e23648.
Stöger R, Genereux DP, Hagerman RJ, Hagerman PJ, Tassone F, Laird CD. PMID: 21909353; PMCID: PMC3166088.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct; 122(4):467-79.
Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. PMID: 21785977; PMCID: PMC3222079.
View in:
PubMed Mentions:
62 Fields:
Translation:
HumansAnimals
-
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry. 2011 Nov 01; 70(9):859-65.
Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM. PMID: 21783174; PMCID: PMC3191264.
View in:
PubMed Mentions:
63 Fields:
Translation:
Humans
-
The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One. 2011; 6(7):e21728.
Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F. PMID: 21818263; PMCID: PMC3139575.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task. Front Hum Neurosci. 2011; 5:63.
Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. PMID: 21808616; PMCID: PMC3139190.
View in:
PubMed Mentions:
44
-
View in:
PubMed Mentions:
125 Fields:
Translation:
Humans
-
Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers. J Int Neuropsychol Soc. 2011 Jul; 17(4):746-50.
Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. PMID: 21554789; PMCID: PMC3210929.
View in:
PubMed Mentions:
18 Fields:
Translation:
Humans
-
Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. J Neuropathol Exp Neurol. 2011 Jun; 70(6):462-9.
Hunsaker MR, Greco CM, Tassone F, Berman RF, Willemsen R, Hagerman RJ, Hagerman PJ. PMID: 21572337; PMCID: PMC3109086.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansCells
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High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med. 2011 Jun; 13(6):528-538.
Chen L, Hadd A, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ. PMID: 21430544; PMCID: PMC4043840.
View in:
PubMed Mentions:
41 Fields:
Translation:
HumansCells
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FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6.
Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. PMID: 21567456; PMCID: PMC3934001.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansCells
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A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS. Curr Gerontol Geriatr Res. 2011; 2011:484713.
Narcisa V, Aguilar D, Nguyen DV, Campos L, Brodovsky J, White S, Adams P, Tassone F, Hagerman PJ, Hagerman RJ. PMID: 23008705; PMCID: PMC3114433.
View in:
PubMed Mentions:
12
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Fragile x syndrome. Curr Genomics. 2011 May; 12(3):216-24.
McLennan Y, Polussa J, Tassone F, Hagerman R. PMID: 22043169; PMCID: PMC3137006.
View in:
PubMed Mentions:
74
-
View in:
PubMed Mentions:
20 Fields:
Translation:
Humans
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Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet. 2012 Jul; 82(1):88-92.
Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A. PMID: 21476992.
View in:
PubMed Mentions:
48 Fields:
Translation:
HumansCells
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Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord. 2011 Jun; 26(7):1329-36.
Hashimoto R, Srivastava S, Tassone F, Hagerman RJ, Rivera SM. PMID: 21484870; PMCID: PMC3119762.
View in:
PubMed Mentions:
48 Fields:
Translation:
Humans
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Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Res. 2011 Aug; 39(14):6172-85.
Tassone F, De Rubeis S, Carosi C, La Fata G, Serpa G, Raske C, Willemsen R, Hagerman PJ, Bagni C. PMID: 21478165; PMCID: PMC3152321.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansAnimalsCells
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CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Hum Mol Genet. 2011 Jun 01; 20(11):2161-70.
Hoem G, Raske CR, Garcia-Arocena D, Tassone F, Sanchez E, Ludwig AL, Iwahashi CK, Kumar M, Yang JE, Hagerman PJ. PMID: 21389081; PMCID: PMC3090194.
View in:
PubMed Mentions:
39 Fields:
Translation:
HumansCells
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A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain. 2011 Mar; 134(Pt 3):863-78.
Hashimoto R, Javan AK, Tassone F, Hagerman RJ, Rivera SM. PMID: 21354978; PMCID: PMC3044831.
View in:
PubMed Mentions:
52 Fields:
Translation:
Humans
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Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation. Am J Med Genet A. 2011 Mar; 155A(3):519-25.
Basuta K, Narcisa V, Chavez A, Kumar M, Gane L, Hagerman R, Tassone F. PMID: 21344625; PMCID: PMC3568664.
View in:
PubMed Mentions:
11 Fields:
Translation:
Humans
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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome. Mol Autism. 2011 Feb 08; 2(1):2.
Greco CM, Navarro CS, Hunsaker MR, Maezawa I, Shuler JF, Tassone F, Delany M, Au JW, Berman RF, Jin LW, Schumann C, Hagerman PJ, Hagerman RJ. PMID: 21303513; PMCID: PMC3045897.
View in:
PubMed Mentions:
40 Fields:
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Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain Cogn. 2011 Apr; 75(3):255-60.
Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Srivastava S, Tassone F, Harvey D, Rivera SM, Simon TJ. PMID: 21295394; PMCID: PMC3050049.
View in:
PubMed Mentions:
46 Fields:
Translation:
Humans
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Brief report: Sensorimotor gating in idiopathic autism and autism associated with fragile X syndrome. J Autism Dev Disord. 2011 Feb; 41(2):248-53.
Yuhas J, Cordeiro L, Tassone F, Ballinger E, Schneider A, Long JM, Ornitz EM, Hessl D. PMID: 20521090; PMCID: PMC3023021.
View in:
PubMed Mentions:
35 Fields:
Translation:
Humans
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View in:
PubMed Mentions:
221 Fields:
Translation:
HumansCells
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Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Neurobiol Aging. 2012 Jun; 33(6):1045-53.
Schneider A, Ballinger E, Chavez A, Tassone F, Hagerman RJ, Hessl D. PMID: 20961665; PMCID: PMC3044775.
View in:
PubMed Mentions:
14 Fields:
Translation:
Humans
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Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. Hum Genet. 2010 Nov; 128(5):539-48.
Chonchaiya W, Tassone F, Ashwood P, Hessl D, Schneider A, Campos L, Nguyen DV, Hagerman RJ. PMID: 20809278; PMCID: PMC2955238.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
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FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord. 2010 Nov; 16(9):608-11.
Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. PMID: 20702130; PMCID: PMC2963704.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Parkinsonism and cognitive decline in a fragile X mosaic male. Mov Disord. 2010 Jul 30; 25(10):1523-4.
Hall D, Pickler L, Riley K, Tassone F, Hagerman R. PMID: 20568092; PMCID: PMC4051493.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
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An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn. 2010 Sep; 12(5):589-600.
Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F, Latham GJ. PMID: 20616364; PMCID: PMC2928422.
View in:
PubMed Mentions:
91 Fields:
Translation:
HumansCells
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An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). J Psychiatr Res. 2011 Jan; 45(1):36-43.
Hashimoto R, Backer KC, Tassone F, Hagerman RJ, Rivera SM. PMID: 20537351; PMCID: PMC2978252.
View in:
PubMed Mentions:
45 Fields:
Translation:
Humans
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Aging in fragile X syndrome. J Neurodev Disord. 2010 Jun; 2(2):70-76.
Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ. PMID: 20585378; PMCID: PMC2882562.
View in:
PubMed Mentions:
35 Fields:
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Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins. Neurotoxicology. 2010 Aug; 31(4):399-402.
Paul R, Pessah IN, Gane L, Ono M, Hagerman PJ, Brunberg JA, Tassone F, Bourgeois JA, Adams PE, Nguyen DV, Hagerman R. PMID: 20466021; PMCID: PMC3918243.
View in:
PubMed Mentions:
27 Fields:
Translation:
Humans
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Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A. 2010 May; 152A(5):1206-12.
Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen N, Rajpert-De Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A. PMID: 20425825; PMCID: PMC5454803.
View in:
PubMed Mentions:
73 Fields:
Translation:
HumansCells
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Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Brain. 2010 May; 133(Pt 5):1438-50.
Olichney JM, Chan S, Wong LM, Schneider A, Seritan A, Niese A, Yang JC, Laird K, Teichholtz S, Khan S, Tassone F, Hagerman R. PMID: 20410144; PMCID: PMC2859155.
View in:
PubMed Mentions:
20 Fields:
Translation:
HumansCells
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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet. 2010 Jul; 78(1):38-46.
Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ. PMID: 20497189; PMCID: PMC4031089.
View in:
PubMed Mentions:
36 Fields:
Translation:
Humans
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Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 05; 153B(3):775-85.
Adams PE, Adams JS, Nguyen DV, Hessl D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, Decarli C, Hagerman PJ, Hagerman RJ. PMID: 19908235; PMCID: PMC2868927.
View in:
PubMed Mentions:
48 Fields:
Translation:
Humans
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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J. 2010 Apr 07; 29(7):1248-61.
Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, Hagerman PJ, Charlet-Berguerand N. PMID: 20186122; PMCID: PMC2857464.
View in:
PubMed Mentions:
217 Fields:
Translation:
HumansAnimalsCells
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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet. 2010 Apr 15; 19(8):1618-32.
Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR. PMID: 20118148; PMCID: PMC2846165.
View in:
PubMed Mentions:
47 Fields:
Translation:
HumansCells
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Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis? Brain Behav Immun. 2010 Aug; 24(6):898-902.
Ashwood P, Nguyen DV, Hessl D, Hagerman RJ, Tassone F. PMID: 20102735; PMCID: PMC3626458.
View in:
PubMed Mentions:
36 Fields:
Translation:
Humans
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A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010 Mar; 56(3):399-408.
Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F. PMID: 20056738; PMCID: PMC4031651.
View in:
PubMed Mentions:
155 Fields:
Translation:
Humans
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Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet. 2010 Jan 01; 19(1):196-208.
Chen Y, Tassone F, Berman RF, Hagerman PJ, Hagerman RJ, Willemsen R, Pessah IN. PMID: 19846466; PMCID: PMC2792156.
View in:
PubMed Mentions:
97 Fields:
Translation:
AnimalsCells
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The Molecular Biology of FXTAS. . 2010 Jan 1; 77-93.
Tassone TF, Hagerman HP. .
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Publisher Site Mentions:
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Genotype/Phenotype Relationships in FXTAS. . 2010 Jan 1; 95-122.
Allen AE, Leehey LM, Tassone TF, Sherman SS. .
View in:
Publisher Site Mentions:
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Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr. 2009 Dec; 30(6):544-51.
Chonchaiya W, Utari A, Pereira GM, Tassone F, Hessl D, Hagerman RJ. PMID: 19996900; PMCID: PMC2822648.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
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High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique. Genet Test Mol Biomarkers. 2009 Dec; 13(6):855-9.
Yuhas J, Walichiewicz P, Pan R, Zhang W, Casillas EM, Hagerman RJ, Tassone F. PMID: 19810826; PMCID: PMC2935836.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
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Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ. PMID: 19864489; PMCID: PMC2796892.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansAnimalsCells
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Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A. 2009 Oct; 149A(10):2306-10.
Loesch DZ, Godler DE, Khaniani M, Gould E, Gehling F, Dissanayake C, Burgess T, Tassone F, Huggins R, Slater H, Choo KH. PMID: 19760650; PMCID: PMC4154630.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res. 2009 Nov; 37(20):6896-904.
Ludwig AL, Raske C, Tassone F, Garcia-Arocena D, Hershey JW, Hagerman PJ. PMID: 19752155; PMCID: PMC2777427.
View in:
PubMed Mentions:
10 Fields:
Translation:
Cells
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Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene. Anal Chem. 2009 Jul 01; 81(13):5533-40.
Dodds ED, Tassone F, Hagerman PJ, Lebrilla CB. PMID: 19514725; PMCID: PMC2744861.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
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FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry. 2009 Jul; 80(7):812-4.
Zhang L, Coffey S, Lua LL, Greco CM, Schafer JA, Brunberg J, Borodyanskaya M, Agius MA, Apperson M, Leehey M, Tartaglia N, Tassone F, Hagerman PJ, Hagerman RJ. PMID: 19531693.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn. 2009 Jul; 11(4):306-10.
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. PMID: 19525339; PMCID: PMC2710706.
View in:
PubMed Mentions:
52 Fields:
Translation:
HumansCells
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A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn. 2009 Jul; 11(4):281-9.
Iwahashi C, Tassone F, Hagerman RJ, Yasui D, Parrott G, Nguyen D, Mayeur G, Hagerman PJ. PMID: 19460937; PMCID: PMC2710703.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansAnimalsCells
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Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn. 2009 Jul; 11(4):324-9.
Fernandez-Carvajal I, Walichiewicz P, Xiaosen X, Pan R, Hagerman PJ, Tassone F. PMID: 19460941; PMCID: PMC2710709.
View in:
PubMed Mentions:
93 Fields:
Translation:
HumansCells
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A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
Bourgeois JA, Coffey SM, Rivera SM, Hessl D, Gane LW, Tassone F, Greco C, Finucane B, Nelson L, Berry-Kravis E, Grigsby J, Hagerman PJ, Hagerman RJ. PMID: 19422761; PMCID: PMC2705685.
View in:
PubMed Mentions:
104 Fields:
Translation:
HumansCells
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IDENTIFYING PATTERNS OF COPY NUMBER VARIANTS IN CASE-CONTROL STUDIES OF HUMAN GENETIC DISORDERS. . 2009 May 1; 1-4.
Alqallaf AA, Tewfik TA, Krakowiak KP, Tassone TF, Davis DR, Hansen HR, Hertz-Picciotto HI, Pessah PI, Gregg GJ, Selleck SS. .
View in:
Publisher Site Mentions:
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A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome. J Neurodev Disord. 2009 Mar; 1(1):33-45.
Hessl D, Nguyen DV, Green C, Chavez A, Tassone F, Hagerman RJ, Senturk D, Schneider A, Lightbody A, Reiss AL, Hall S. PMID: 19865612; PMCID: PMC2768415.
View in:
PubMed Mentions:
91 Fields:
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Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome. Cogn Affect Behav Neurosci. 2009 Mar; 9(1):83-90.
Takarae Y, Schmidt L, Tassone F, Simon TJ. PMID: 19246329; PMCID: PMC2730497.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Arch Neurol. 2009 Feb; 66(2):244-9.
Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, Tassone F. PMID: 19204162.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
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Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data. Biometrics. 2009 Sep; 65(3):781-92.
Sentürk D, Nguyen DV, Tassone F, Hagerman RJ, Carroll RJ, Hagerman PJ. PMID: 19173699; PMCID: PMC2748149.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
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Autism profiles of males with fragile X syndrome. Am J Ment Retard. 2008 Nov; 113(6):427-38.
Harris SW, Hessl D, Goodlin-Jones B, Ferranti J, Bacalman S, Barbato I, Tassone F, Hagerman PJ, Herman H, Hagerman RJ. PMID: 19127654; PMCID: PMC2629645.
View in:
PubMed Mentions:
204 Fields:
Translation:
Humans
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Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A. 2008 Aug 01; 146A(15):1911-6.
García-Nonell C, Ratera ER, Harris S, Hessl D, Ono MY, Tartaglia N, Marvin E, Tassone F, Hagerman RJ. PMID: 18627038; PMCID: PMC4097171.
View in:
PubMed Mentions:
45 Fields:
Translation:
HumansCells
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Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol. 2008 Aug; 65(8):1114-6.
Greco CM, Tassone F, Garcia-Arocena D, Tartaglia N, Coffey SM, Vartanian TK, Brunberg JA, Hagerman PJ, Hagerman RJ. PMID: 18695063; PMCID: PMC3081275.
View in:
PubMed Mentions:
35 Fields:
Translation:
Humans
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Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene. Am J Med Genet A. 2008 Jun 15; 146A(12):1543-6.
Jenkins EC, Tassone F, Ye L, Gu H, Xi M, Velinov M, Brown WT, Hagerman RJ, Hagerman PJ. PMID: 18478592; PMCID: PMC2766597.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008 Apr 15; 146A(8):1009-16.
Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ. PMID: 18348275; PMCID: PMC2888464.
View in:
PubMed Mentions:
173 Fields:
Translation:
HumansCells
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View in:
PubMed Mentions:
41 Fields:
Translation:
HumansCells
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A girl with fragile X premutation from sperm donation. Am J Med Genet A. 2008 Apr 01; 146A(7):888-92.
Wirojanan J, Angkustsiri K, Tassone F, Gane LW, Hagerman RJ. PMID: 18286596.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Two boys with fragile x syndrome and hepatic tumors. J Pediatr Hematol Oncol. 2008 Mar; 30(3):239-41.
Wirojanan J, Kraff J, Hawkins DS, Laird C, Gane LW, Angkustsiri K, Tassone F, Hagerman RJ. PMID: 18376289.
View in:
PubMed Mentions:
5 Fields:
Translation:
Humans
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A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. Am J Med Genet A. 2008 Mar 01; 146A(5):629-35.
Aguilar D, Sigford KE, Soontarapornchai K, Nguyen DV, Adams PE, Yuhas JM, Tassone F, Hagerman PJ, Hagerman RJ. PMID: 18241072.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
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The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol. 2008 Nov; 30(8):853-69.
Brega AG, Goodrich G, Bennett RE, Hessl D, Engle K, Leehey MA, Bounds LS, Paulich MJ, Hagerman RJ, Hagerman PJ, Cogswell JB, Tassone F, Reynolds A, Kooken R, Kenny M, Grigsby J. PMID: 18608667; PMCID: PMC4098148.
View in:
PubMed Mentions:
53 Fields:
Translation:
Humans
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Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation. Brain Imaging Behav. 2008 Jan 18; 2(2):105-116.
Koldewyn K, Hessl D, Adams J, Tassone F, Hagerman PJ, Hagerman RJ, Rivera SM. PMID: 19430586; PMCID: PMC2678852.
View in:
PubMed Mentions:
40 Fields:
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Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology. 2008 Jan; 22(1):48-60.
Grigsby J, Brega AG, Engle K, Leehey MA, Hagerman RJ, Tassone F, Hessl D, Hagerman PJ, Cogswell JB, Bennett RE, Cook K, Hall DA, Bounds LS, Paulich MJ, Reynolds A. PMID: 18211155.
View in:
PubMed Mentions:
100 Fields:
Translation:
HumansCells
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A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008 Jan; 10(1):43-9.
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. PMID: 18165273; PMCID: PMC2175542.
View in:
PubMed Mentions:
216 Fields:
Translation:
HumansCells
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ. PMID: 18057320; PMCID: PMC2685188.
View in:
PubMed Mentions:
111 Fields:
Translation:
HumansCells
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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. J Med Genet. 2008 Mar; 45(3):179-81.
Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E. PMID: 18057083.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007 Oct 31; 22(14):2018-30, quiz 2140.
Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, Grigsby J, Bourgeois JA, Finucane B, Jacquemont S, Brunberg JA, Zhang L, Lin J, Tassone F, Hagerman PJ, Hagerman RJ, Leehey MA. PMID: 17618523.
View in:
PubMed Mentions:
148 Fields:
Translation:
Humans
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An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet. 2007 Dec 15; 16(24):3174-87.
Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN. PMID: 17921506.
View in:
PubMed Mentions:
155 Fields:
Translation:
HumansAnimalsCells
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Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A. 2007 Oct 01; 143A(19):2256-60.
Hagerman RJ, Coffey SM, Maselli R, Soontarapornchai K, Brunberg JA, Leehey MA, Zhang L, Gane LW, Fenton-Farrell G, Tassone F, Hagerman PJ. PMID: 17726686.
View in:
PubMed Mentions:
31 Fields:
Translation:
Humans
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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology. 2007 Aug 28; 69(9):851-9.
Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ. PMID: 17724287.
View in:
PubMed Mentions:
97 Fields:
Translation:
HumansCells
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Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol. 2007 Jul; 64(7):1002-6.
Kraff J, Tang HT, Cilia R, Canesi M, Pezzoli G, Goldwurm S, Hagerman PJ, Tassone F. PMID: 17620491.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry. 2007 Jul-Aug; 29(4):349-56.
Bourgeois JA, Cogswell JB, Hessl D, Zhang L, Ono MY, Tassone F, Farzin F, Brunberg JA, Grigsby J, Hagerman RJ. PMID: 17591512; PMCID: PMC3991490.
View in:
PubMed Mentions:
51 Fields:
Translation:
Humans
-
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 05; 144B(4):566-9.
Tassone F, Adams J, Berry-Kravis EM, Cohen SS, Brusco A, Leehey MA, Li L, Hagerman RJ, Hagerman PJ. PMID: 17427188.
View in:
PubMed Mentions:
88 Fields:
Translation:
HumansCells
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Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord. 2007 Apr 15; 22(5):645-50.
Grigsby J, Brega AG, Leehey MA, Goodrich GK, Jacquemont S, Loesch DZ, Cogswell JB, Epstein J, Wilson R, Jardini T, Gould E, Bennett RE, Hessl D, Cohen S, Cook K, Tassone F, Hagerman PJ, Hagerman RJ. PMID: 17266074.
View in:
PubMed Mentions:
46 Fields:
Translation:
HumansCells
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The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr. 2007 Apr; 28(2):133-8.
Nowicki ST, Tassone F, Ono MY, Ferranti J, Croquette MF, Goodlin-Jones B, Hagerman RJ. PMID: 17435464.
View in:
PubMed Mentions:
67 Fields:
Translation:
HumansCells
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Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder. J Autism Dev Disord. 2008 Jan; 38(1):184-9.
Hessl D, Tassone F, Cordeiro L, Koldewyn K, McCormick C, Green C, Wegelin J, Yuhas J, Hagerman RJ. PMID: 17340199.
View in:
PubMed Mentions:
43 Fields:
Translation:
HumansCells
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Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA. 2007 Apr; 13(4):555-62.
Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ. PMID: 17283214; PMCID: PMC1831862.
View in:
PubMed Mentions:
117 Fields:
Translation:
Cells
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Early acceleration of head circumference in children with fragile x syndrome and autism. J Dev Behav Pediatr. 2007 Feb; 28(1):31-5.
Chiu S, Wegelin JA, Blank J, Jenkins M, Day J, Hessl D, Tassone F, Hagerman R. PMID: 17353729.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
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Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007 Jan 15; 22(2):203-6.
Leehey MA, Berry-Kravis E, Min SJ, Hall DA, Rice CD, Zhang L, Grigsby J, Greco CM, Reynolds A, Lara R, Cogswell J, Jacquemont S, Hessl DR, Tassone F, Hagerman R, Hagerman PJ. PMID: 17133502.
View in:
PubMed Mentions:
70 Fields:
Translation:
HumansCells
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Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ. PMID: 17152065.
View in:
PubMed Mentions:
59 Fields:
Translation:
HumansCellsPHPublic Health
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Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. J Clin Neurosci. 2007 Mar; 14(3):245-8.
Loesch DZ, Litewka L, Churchyard A, Gould E, Tassone F, Cook M. PMID: 17194594.
View in:
PubMed Mentions:
10 Fields:
Translation:
Humans
-
Amygdala dysfunction in men with the fragile X premutation. Brain. 2007 Feb; 130(Pt 2):404-16.
Hessl D, Rivera S, Koldewyn K, Cordeiro L, Adams J, Tassone F, Hagerman PJ, Hagerman RJ. PMID: 17166860.
View in:
PubMed Mentions:
77 Fields:
Translation:
Humans
-
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev. 2007; 31(3):315-26.
Loesch DZ, Bui QM, Dissanayake C, Clifford S, Gould E, Bulhak-Paterson D, Tassone F, Taylor AK, Hessl D, Hagerman R, Huggins RM. PMID: 17097142; PMCID: PMC2145511.
View in:
PubMed Mentions:
68 Fields:
Translation:
Humans
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Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology. 2006 Oct 24; 67(8):1426-31.
Cohen S, Masyn K, Adams J, Hessl D, Rivera S, Tassone F, Brunberg J, DeCarli C, Zhang L, Cogswell J, Loesch D, Leehey M, Grigsby J, Hagerman PJ, Hagerman R. PMID: 17060569.
View in:
PubMed Mentions:
74 Fields:
Translation:
HumansCells
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Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cogn Behav Neurol. 2006 Sep; 19(3):165-71.
Grigsby J, Leehey MA, Jacquemont S, Brunberg JA, Hagerman RJ, Wilson R, Epstein JH, Greco CM, Tassone F, Hagerman PJ. PMID: 16957495.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet. 2007 Mar; 44(3):200-4.
Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. PMID: 16905681; PMCID: PMC2598026.
View in:
PubMed Mentions:
46 Fields:
Translation:
HumansCells
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Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci. 2006 Oct 25; 248(1-2):227-33.
Grigsby J, Brega AG, Jacquemont S, Loesch DZ, Leehey MA, Goodrich GK, Hagerman RJ, Epstein J, Wilson R, Cogswell JB, Jardini T, Tassone F, Hagerman PJ. PMID: 16780889.
View in:
PubMed Mentions:
71 Fields:
Translation:
Humans
-
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr. 2006 Apr; 27(2 Suppl):S137-44.
Farzin F, Perry H, Hessl D, Loesch D, Cohen J, Bacalman S, Gane L, Tassone F, Hagerman P, Hagerman R. PMID: 16685180.
View in:
PubMed Mentions:
169 Fields:
Translation:
HumansCells
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Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci. 2006; 18(2):171-7.
Bourgeois JA, Farzin F, Brunberg JA, Tassone F, Hagerman P, Zhang L, Hessl D, Hagerman R. PMID: 16720793.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansCells
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Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry. 2006 Jan; 67(1):87-94.
Bacalman S, Farzin F, Bourgeois JA, Cogswell J, Goodlin-Jones BL, Gane LW, Grigsby J, Leehey MA, Tassone F, Hagerman RJ. PMID: 16426093.
View in:
PubMed Mentions:
84 Fields:
Translation:
Humans
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006 Jan; 129(Pt 1):243-55.
Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ. PMID: 16332642.
View in:
PubMed Mentions:
269 Fields:
Translation:
HumansCells
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):115-21.
Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ. PMID: 16184602.
View in:
PubMed Mentions:
123 Fields:
Translation:
HumansCells
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An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn. 2005 Nov; 7(5):605-12.
Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A. PMID: 16258159; PMCID: PMC1867559.
View in:
PubMed Mentions:
55 Fields:
Translation:
HumansCells
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Protein composition of the intranuclear inclusions of FXTAS. Brain. 2006 Jan; 129(Pt 1):256-71.
Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, Hagerman PJ. PMID: 16246864.
View in:
PubMed Mentions:
186 Fields:
Translation:
HumansCells
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Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet. 2005 Dec 01; 14(23):3661-71.
Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ. PMID: 16239243.
View in:
PubMed Mentions:
86 Fields:
Translation:
HumansCells
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Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis. 2006 Feb; 21(2):346-57.
Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen LA, Willemsen R, Tassone F, Kooy RF. PMID: 16199166.
View in:
PubMed Mentions:
86 Fields:
Translation:
HumansAnimals
-
Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol. 2005 Aug; 58(2):326-30.
Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M. PMID: 16049924.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCells
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No evidence of paternal transmission of fragile X syndrome. Am J Med Genet A. 2005 Jul 01; 136(1):107-8; author reply 109-10.
Steinbach D, Steinbach P. PMID: 15887276.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet. 2005 May; 67(5):412-7.
Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F. PMID: 15811008.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansCells
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Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet. 2005 Feb; 42(2):e14.
Jacquemont S, Orrico A, Galli L, Sahota PK, Brunberg JA, Anichini C, Leehey M, Schaeffer S, Hagerman RJ, Hagerman PJ, Tassone F. PMID: 15689437; PMCID: PMC1735999.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
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Neural progenitor cells from an adult patient with fragile X syndrome. BMC Med Genet. 2005 Jan 14; 6:2.
Schwartz PH, Tassone F, Greco CM, Nethercott HE, Ziaeian B, Hagerman RJ, Hagerman PJ. PMID: 15649335; PMCID: PMC545950.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansCells
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GRAND ROUNDS: an atypical progressive dementia in a male carrier of the fragile X premutation: an example of fragile X-associated tremor/ataxia syndrome. Appl Neuropsychol. 2005; 12(3):169-78.
Mothersead PK, Conrad K, Hagerman RJ, Greco CM, Hessl D, Tassone F. PMID: 16131344.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
-
Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr. 2004 Dec; 25(6):392-8.
Goodlin-Jones BL, Tassone F, Gane LW, Hagerman RJ. PMID: 15613987.
View in:
PubMed Mentions:
51 Fields:
Translation:
HumansPHPublic Health
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The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain. 2004 Dec; 127(Pt 12):2672-81.
Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG. PMID: 15483045.
View in:
PubMed Mentions:
30 Fields:
Translation:
HumansCells
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Paternal transmission of fragile X syndrome. Am J Med Genet A. 2004 Aug 30; 129A(2):184-9.
Zeesman S, Zwaigenbaum L, Whelan DT, Hagerman RJ, Tassone F, Taylor SA. PMID: 15316964.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
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Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord. 2004 Aug; 19(8):930-3.
Garcia Arocena D, Louis ED, Tassone F, Gilliam TC, Ottman R, Jacquemont S, Hagerman PJ. PMID: 15300658.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
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FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 2004 Jul; 1(2):103-5.
Tassone F, Iwahashi C, Hagerman PJ. PMID: 17179750.
View in:
PubMed Mentions:
144 Fields:
Translation:
HumansCells
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet. 2004 May; 74(5):1051-6.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. PMID: 15065016; PMCID: PMC1181968.
View in:
PubMed Mentions:
124 Fields:
Translation:
HumansCells
-
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet. 2004 Apr; 41(4):e43.
Tassone F, Hagerman RJ, Garcia-Arocena D, Khandjian EW, Greco CM, Hagerman PJ. PMID: 15060119; PMCID: PMC1735735.
View in:
PubMed Mentions:
89 Fields:
Translation:
HumansCells
-
Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
Jacquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ. PMID: 15000674; PMCID: PMC3249442.
View in:
PubMed Mentions:
51 Fields:
Translation:
Humans
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28; 291(4):460-9.
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. PMID: 14747503.
View in:
PubMed Mentions:
275 Fields:
Translation:
HumansCells
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Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet. 2004 Mar 01; 13(5):543-9.
Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ. PMID: 14722156.
View in:
PubMed Mentions:
36 Fields:
Translation:
HumansCells
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A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia. 2004; 42(14):1934-47.
Moore CJ, Daly EM, Schmitz N, Tassone F, Tysoe C, Hagerman RJ, Hagerman PJ, Morris RG, Murphy KC, Murphy DG. PMID: 15381024.
View in:
PubMed Mentions:
52 Fields:
Translation:
HumansCells
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The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet. 2003 Dec 01; 12(23):3067-74.
Chen LS, Tassone F, Sahota P, Hagerman PJ. PMID: 14519687.
View in:
PubMed Mentions:
70 Fields:
Translation:
HumansCells
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet. 2003 May 01; 12(9):949-59.
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA. PMID: 12700164.
View in:
PubMed Mentions:
137 Fields:
Translation:
HumansAnimalsCells
-
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78.
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. PMID: 12638084; PMCID: PMC1180350.
View in:
PubMed Mentions:
314 Fields:
Translation:
Humans
-
Expression of the FMR1 gene. Cytogenet Genome Res. 2003; 100(1-4):124-8.
Tassone F, Hagerman PJ. PMID: 14526172.
View in:
PubMed Mentions:
25 Fields:
Translation:
HumansCells
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The fragile X premutation presenting as essential tremor. Arch Neurol. 2003 Jan; 60(1):117-21.
Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grigsby J, Greco C, Jacquemont S, Tassone F, Lozano AM, Hagerman PJ, Hagerman RJ. PMID: 12533098.
View in:
PubMed Mentions:
33 Fields:
Translation:
Humans
-
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA. 2002 Dec; 8(12):1482-8.
Primerano B, Tassone F, Hagerman RJ, Hagerman P, Amaldi F, Bagni C. PMID: 12515381; PMCID: PMC1370354.
View in:
PubMed Mentions:
101 Fields:
Translation:
HumansCells
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Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002 Nov-Dec; 23(10):1757-66.
Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ. PMID: 12427636; PMCID: PMC8185834.
View in:
PubMed Mentions:
144 Fields:
Translation:
HumansCells
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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain. 2002 Aug; 125(Pt 8):1760-71.
Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. PMID: 12135967.
View in:
PubMed Mentions:
237 Fields:
Translation:
HumansCells
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Tremor/Ataxia syndrome in fragile X carrier males. Movement Disorders. 2002 Jul 1; 17(4):744-745.
Leehey LM, Hagerman HR, Hagerman HR, Landau LW, Grigsby GJ, Tassone TF, Hagerman HP. .
View in:
Publisher Site Mentions:
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001 Jul 10; 57(1):127-30.
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. PMID: 11445641.
View in:
PubMed Mentions:
404 Fields:
Translation:
Humans
-
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet. 2001 Jul; 38(7):453-6.
Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ. PMID: 11432964; PMCID: PMC1757182.
View in:
PubMed Mentions:
43 Fields:
Translation:
HumansCells
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Variability in FMRP and early development in males with fragile X syndrome. Am J Ment Retard. 2001 Jan; 106(1):16-27.
Bailey DB, Hatton DD, Tassone F, Skinner M, Taylor AK. PMID: 11246709.
View in:
PubMed Mentions:
33 Fields:
Translation:
Humans
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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet. 2000 Sep 18; 94(3):232-6.
Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ. PMID: 10995510.
View in:
PubMed Mentions:
77 Fields:
Translation:
HumansCells
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Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet. 2000 Mar 13; 91(2):144-52.
Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ. PMID: 10748416.
View in:
PubMed Mentions:
96 Fields:
Translation:
HumansCells
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Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet. 2000; 97(3):195-203.
Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ. PMID: 11449488.
View in:
PubMed Mentions:
93 Fields:
Translation:
HumansCells
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 2000 Jan; 66(1):6-15.
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. PMID: 10631132; PMCID: PMC1288349.
View in:
PubMed Mentions:
389 Fields:
Translation:
HumansCells
-
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. Am J Med Genet. 1999 Jul 30; 85(3):197-201.
Freedenberg DL, Gane LW, Richards CS, Lampe M, Hills J, O'Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman RJ, Patil SR. PMID: 10398226.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet. 1999 May 28; 84(3):233-9.
Taylor AK, Tassone F, Dyer PN, Hersch SM, Harris JB, Greenough WT, Hagerman RJ. PMID: 10331599.
View in:
PubMed Mentions:
32 Fields:
Translation:
HumansCells
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Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. Am J Med Genet. 1999 May 28; 84(3):240-4.
Tassone F, Hagerman RJ, Gane LW, Taylor AK. PMID: 10331600.
View in:
PubMed Mentions:
20 Fields:
Translation:
Humans
-
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet. 1999 May 28; 84(3):250-61.
Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK. PMID: 10331602.
View in:
PubMed Mentions:
128 Fields:
Translation:
Humans
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Tissue-specific methylation differences in a fragile X premutation carrier. Clin Genet. 1999 May; 55(5):346-51.
Tassone F, Longshore J, Zunich J, Steinbach P, Salat U, Taylor AK. PMID: 10422805.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet. 1999 Apr 02; 83(4):268-79.
Miller LJ, McIntosh DN, McGrath J, Shyu V, Lampe M, Taylor AK, Tassone F, Neitzel K, Stackhouse T, Hagerman RJ. PMID: 10208160.
View in:
PubMed Mentions:
158 Fields:
Translation:
Humans
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Compound heterozygous female with fragile X syndrome. Am J Med Genet. 1999 Apr 02; 83(4):318-21.
Linden MG, Tassone F, Gane LW, Hills JL, Hagerman RJ, Taylor AK. PMID: 10208169.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes. Gene. 1999 Jan 21; 226(2):211-23.
Tassone F, Villard L, Clancy K, Gardiner K. PMID: 9931491.
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4 Fields:
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HumansAnimalsCells
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Gene expression relevant to Down syndrome: problems and approaches. J Neural Transm Suppl. 1999; 57:179-95.
Tassone F, Lucas R, Slavov D, Kavsan V, Crnic L, Gardiner K. PMID: 10666675.
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5 Fields:
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HumansAnimalsCells
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Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics. 1998 Apr 01; 49(1):1-13.
Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Créau N, Brahe C. PMID: 9570943.
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4 Fields:
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HumansCells
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Analysis of pufferfish homologues of the AT-rich human APP gene. Gene. 1998 Mar 27; 210(1):17-24.
Villard L, Tassone F, Crnogorac-Jurcevic T, Clancy K, Gardiner K. PMID: 9599080.
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4 Fields:
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HumansAnimalsCells
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Map location, genomic organization and expression patterns of the human RED1 RNA editase. Somat Cell Mol Genet. 1997 Mar; 23(2):135-45.
Villard L, Tassone F, Haymowicz M, Welborn R, Gardiner K. PMID: 9330641.
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6 Fields:
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HumansAnimalsCells
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cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization. Hum Mol Genet. 1995 Sep; 4(9):1509-18.
Tassone F, Xu H, Burkin H, Weissman S, Gardiner K. PMID: 8541833.
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6 Fields:
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HumansCells
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A search for genes from the dark band regions of human chromosome 21. Genomics. 1995 May 01; 27(1):1-8.
Xu H, Wei H, Tassone F, Graw S, Gardiner K, Weissman SM. PMID: 7665155.
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8 Fields:
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HumansAnimalsCells
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Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. Hum Genet. 1994 Jan; 93(1):85-6.
Zappata S, Petersen MB, König U, Blaschak J, Chakravarti A, Tassone F, Serra A, Antonarakis SE, Brahe C. PMID: 8270262.
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2 Fields:
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HumansCells
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Molecular and cytogenetic characterization of a Chinese hamster/human hybrid cell line containing a der (21)t(Ypter-->cenY::cen21-->21qter) chromosome. Genomics. 1993 Jan; 15(1):177-9.
Patterson D, Hart I, Lai LW, Brahe C, Moscetti A, Tassone F, Raimondi E, Jones C. PMID: 8432530.
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1 Fields:
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HumansAnimalsCells
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Analysis of chromosome 21 yeast artificial chromosome (YAC) clones. Am J Hum Genet. 1992 Dec; 51(6):1251-64.
Tassone F, Cheng S, Gardiner K. PMID: 1463009; PMCID: PMC1682922.
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9 Fields:
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HumansCells
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Dinucleotide repeat polymorphism at the D21S65 locus. Hum Mol Genet. 1992 Aug; 1(5):350.
Goto J, Tassone F, Demczuk S, Gardiner K, Figlewicz DA, Khodr N, Rouleau GA. PMID: 1303216.
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HumansCells
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D21S170 maps to terminal 21q22.3. Nucleic Acids Res. 1990 Oct 25; 18(20):6178.
Moscetti A, Tassone F, Serra A, Brahe C. PMID: 1978295; PMCID: PMC332470.
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HumansAnimalsCells
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Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl. 1990; 7:162-8.
Serra A, Brahe C, Millington-Ward A, Neri G, Tedeschi B, Tassone F, Bova R. PMID: 1981475.
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12 Fields:
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HumansCells
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Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. Am J Med Genet Suppl. 1990; 7:125-8.
Brahe C, Tassone F, Moscetti A, Millington-Ward A, Bova R, Serra A. PMID: 2149938.
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3 Fields:
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HumansCells
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Potential gene sequence isolation and regional mapping in human chromosome 21. Am J Med Genet Suppl. 1990; 7:120-4.
Brahe C, Tassone F, Millington-Ward A, Serra A, Gardiner K. PMID: 2127361.
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3 Fields:
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HumansAnimalsCells
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Family and population studies of SAHH and ADA polymorphisms. A possible pitfall in the ascertainment of SAHH electrophoretic phenotypes. Ann Hum Genet. 1987 10; 51(4):295-302.
Scozzari R, Sellitto D, Tassone F, Cerroni L, Aliquò MC. PMID: 3447513.
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HumansCells