-
Ophthalmological research in Germany: suggestions by an international expert panel. Ophthalmologie. 2024 Jun 27.
Ader M, Cursiefen C, Fauser S, Gliem M, Helbig H, Lagrèze W, Marshall J, Roesky C, Sahel JA, Schlötzer-Schrehard U, Sieving P, Ueffing M. PMID: 38935095.
View in:
PubMed Mentions: Fields:
-
[Ophthalmological research in Germany: evaluation by an international expert panel]. Ophthalmologie. 2024 Jun; 121(6):482-486.
Ader M, Cursiefen C, Fauser S, Gliem M, Helbig H, Lagrèze W, Marshall J, Roesky C, Sahel JA, Schlötzer-Schrehard U, Sieving P, Ueffing M. PMID: 38775988.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
OCT Intensity of the Region between Outer Retina Band 2 and Band 3 as a Biomarker for Retinal Degeneration and Therapy. Bioengineering (Basel). 2024 May 01; 11(5).
Zeng Y, Gao S, Li Y, Marangoni D, De Silva T, Wong WT, Chew EY, Sun X, Li T, Sieving PA, Qian H. PMID: 38790316; PMCID: PMC11118669.
View in:
PubMed Mentions:
-
Statistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations. Invest Ophthalmol Vis Sci. 2024 Apr 01; 65(4):3.
Fadda A, Martelli F, Zein WM, Jeffrey B, Placidi G, Sieving PA, Falsini B. PMID: 38558093; PMCID: PMC10996996.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
A Literary Pediatric Retina Fellowship With Michael T. Trese, MD. Ophthalmic Surg Lasers Imaging Retina. 2023 Dec; 54(12):701-712.
Wood EH, Moshfeghi DM, Capone A, Williams GA, Blumenkranz MS, Sieving PA, Harper CA, Hartnett ME, Drenser KA. PMID: 38113364.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
X-Linked Retinoschisis. Cold Spring Harb Perspect Med. 2023 09 01; 13(9).
Ku CA, Wei LW, Sieving PA. PMID: 36690462; PMCID: PMC10513161.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansAnimals
-
A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis. Invest Ophthalmol Vis Sci. 2023 Jan 03; 64(1):18.
Sin TN, Kim S, Li Y, Wang J, Chen R, Chung SH, Kim S, Casanova MI, Park S, Smit-McBride Z, Sun N, Pomerantz O, Roberts JA, Guan B, Hufnagel RB, Moshiri A, Thomasy SM, Sieving PA, Yiu G. PMID: 36689233; PMCID: PMC9896856.
View in:
PubMed Mentions:
4 Fields:
Translation:
Animals
-
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function. Prog Retin Eye Res. 2023 Jul; 95:101147.
Heymann JB, Vijayasarathy C, Fariss RN, Sieving PA. PMID: 36402656; PMCID: PMC10185713.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
XLRS Rat with Rs1-/Y Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development. Genes (Basel). 2022 10 31; 13(11).
Ye EA, Zeng Y, Thomas S, Sun N, Smit-McBride Z, Sieving PA. PMID: 36360232; PMCID: PMC9690472.
View in:
PubMed Mentions:
2 Fields:
Translation:
Animals
-
Ethical considerations regarding animal experimentation. J Prev Med Hyg. 2022 Jun; 63(2 Suppl 3):E255-E266.
Kiani AK, Pheby D, Henehan G, Brown R, Sieving P, Sykora P, Marks R, Falsini B, Capodicasa N, Miertus S, Lorusso L, Dondossola D, Tartaglia GM, Ergoren MC, Dundar M, Michelini S, Malacarne D, Bonetti G, Dautaj A, Donato K, Medori MC, Beccari T, Samaja M, Connelly ST, Martin D, Morresi A, Bacu A, Herbst KL, Kapustin M, Stuppia L, Lumer L, Farronato G, Bertelli M, INTERNATIONAL BIOETHICS STUDY GROUP . PMID: 36479489; PMCID: PMC9710398.
View in:
PubMed Mentions:
32 Fields:
Translation:
HumansAnimals
-
Methodology for clinical research. J Prev Med Hyg. 2022 Jun; 63(2 Suppl 3):E267-E278.
Kiani AK, Naureen Z, Pheby D, Henehan G, Brown R, Sieving P, Sykora P, Marks R, Falsini B, Capodicasa N, Miertus S, Lorusso L, Dondossola D, Tartaglia GM, Ergoren MC, Dundar M, Michelini S, Malacarne D, Bonetti G, Donato K, Medori MC, Beccari T, Samaja M, Connelly ST, Martin D, Morresi A, Bacu A, Herbst KL, Kapustin M, Stuppia L, Lumer L, Farronato G, Bertelli M, INTERNATIONAL BIOETHICS STUDY GROUP . PMID: 36479476; PMCID: PMC9710407.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. Invest Ophthalmol Vis Sci. 2022 10 03; 63(11):8.
Vijayasarathy C, Zeng Y, Marangoni D, Dong L, Pan ZH, Simpson EM, Fariss RN, Sieving PA. PMID: 36227606; PMCID: PMC9583743.
View in:
PubMed Mentions:
2 Fields:
Translation:
AnimalsCells
-
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Hum Mutat. 2022 07; 43(7):832-858.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. PMID: 35332618.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 04 12; 13(4).
Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. PMID: 35456481; PMCID: PMC9029724.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration. Commun Biol. 2021 12 09; 4(1):1360.
Miyagishima KJ, Sharma R, Nimmagadda M, Clore-Gronenborn K, Qureshy Z, Ortolan D, Bose D, Farnoodian M, Zhang C, Fausey A, Sergeev YV, Abu-Asab M, Jun B, Do KV, Kautzman Guerin MA, Calandria J, George A, Guan B, Wan Q, Sharp RC, Cukras C, Sieving PA, Hufnagel RB, Bazan NG, Boesze-Battaglia K, Miller S, Bharti K. PMID: 34887495; PMCID: PMC8660775.
View in:
PubMed Mentions:
14 Translation:
Humans
-
MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration. Retina. 2021 Nov 01; 41(11):2236-2245.
Keenan TDL, Vanderford EK, de Silva T, Sieving PA, Cukras CA. PMID: 33990119; PMCID: PMC8542642.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. PMID: 34662339; PMCID: PMC8589175.
View in:
PubMed Mentions:
8 Fields:
Translation:
Humans
-
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. Ophthalmology. 2022 02; 129(2):191-202.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, van Genderen MM, Sieving PA, Leroy BP, Bergen AA, Boon CJF. PMID: 34624300.
View in:
PubMed Mentions:
20 Fields:
Translation:
HumansCells
-
X-linked Retinoschisis and Gene Therapy. Int Ophthalmol Clin. 2021 10 01; 61(4):173-184.
Mishra A, Sieving PA. PMID: 34584055.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation. Gene Ther. 2022 08; 29(7-8):431-440.
Zeng Y, Qian H, Campos MM, Li Y, Vijayasarathy C, Sieving PA. PMID: 34548657; PMCID: PMC8938309.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
-
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling. Prog Retin Eye Res. 2022 03; 87:100999.
Vijayasarathy C, Sardar Pasha SPB, Sieving PA. PMID: 34390869.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
-
Host Immune Responses after Suprachoroidal Delivery of AAV8 in Nonhuman Primate Eyes. Hum Gene Ther. 2021 07; 32(13-14):682-693.
Chung SH, Mollhoff IN, Mishra A, Sin TN, Ngo T, Ciulla T, Sieving P, Thomasy SM, Yiu G. PMID: 33446041; PMCID: PMC8312020.
View in:
PubMed Mentions:
20 Fields:
Translation:
AnimalsCells
-
Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial. Mol Ther. 2021 06 02; 29(6):2030-2040.
Mishra A, Vijayasarathy C, Cukras CA, Wiley HE, Sen HN, Zeng Y, Wei LL, Sieving PA. PMID: 33601057; PMCID: PMC8178519.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCellsCTClinical Trials
-
Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery. Hum Gene Ther. 2021 07; 32(13-14):667-681.
Vijayasarathy C, Zeng Y, Brooks MJ, Fariss RN, Sieving PA. PMID: 33019822; PMCID: PMC8312029.
View in:
PubMed Mentions:
14 Fields:
Translation:
AnimalsCells
-
NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future. Transl Vis Sci Technol. 2020 06; 9(7):49.
Wright C, Mazzucco AE, Becker SM, Sieving PA, Tumminia SJ. PMID: 32832254; PMCID: PMC7414643.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration. Transl Vis Sci Technol. 2020 06; 9(7):28.
Song H, Zeng Y, Sardar Pasha SPB, Bush RA, Vijayasarathy C, Qian H, Wei L, Wiley HE, Wu Z, Sieving PA. PMID: 32844051; PMCID: PMC7416894.
View in:
PubMed Mentions:
3 Fields:
Translation:
AnimalsCells
-
"Para-retinal" Vector Administration into the Deep Vitreous Enhances Retinal Transgene Expression. Mol Ther Methods Clin Dev. 2020 Sep 11; 18:422-427.
Zeng Y, Boyd R, Bartoe J, Wiley HE, Marangoni D, Wei LL, Sieving PA. PMID: 32695844; PMCID: PMC7363691.
View in:
PubMed Mentions:
4
-
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium. Transl Vis Sci Technol. 2020 06; 9(7):2.
Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN, Monaciano Consortium. PMID: 32832209; PMCID: PMC7414644.
View in:
PubMed Mentions:
36 Fields:
Translation:
Humans
-
"There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis. Am J Ophthalmol. 2020 04; 212:98-104.
Turriff A, Nolen R, D'Amanda C, Biesecker B, Cukras C, Sieving PA. PMID: 31765628; PMCID: PMC8696984.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions. Invest Ophthalmol Vis Sci. 2019 08 01; 60(10):3680-3688.
Bush RA, Tanikawa A, Zeng Y, Sieving PA. PMID: 31469895; PMCID: PMC6716952.
View in:
PubMed Mentions:
4 Fields:
Translation:
AnimalsCells
-
AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration. Gene Ther. 2019 09; 26(9):386-398.
Zeng Y, Qian H, Wu Z, Marangoni D, Sieving PA, Bush RA. PMID: 31308478; PMCID: PMC11388630.
View in:
PubMed Mentions:
6 Fields:
Translation:
AnimalsCells
-
Improved Ocular Tissue Models and Eye-On-A-Chip Technologies Will Facilitate Ophthalmic Drug Development. J Ocul Pharmacol Ther. 2020 Jan/Feb; 36(1):25-29.
Wright CB, Becker SM, Low LA, Tagle DA, Sieving PA. PMID: 31166829; PMCID: PMC6985761.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
-
Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial. Am J Ophthalmol. 2019 08; 204:90-96.
Turriff A, Blain D, Similuk M, Biesecker B, Wiley H, Cukras C, Sieving PA. PMID: 30885710; PMCID: PMC6642689.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCTClinical Trials
-
The NIH Blueprint for Neuroscience Research Seeks Community Input on Future Neuroscience Investments. J Neurosci. 2019 01 30; 39(5):774-775.
Mott MC, Austin CP, Bianchi DW, Cashion AK, Gordon JA, Heemskerk JE, Hodes RJ, Koob GF, Riley WT, Sieving PA, Shurtleff D, Somerman MJ, Volkow ND, Anderson KC, Owens DF, Koroshetz WJ. PMID: 30700523; PMCID: PMC6382981.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina. J Cell Biol. 2019 03 04; 218(3):1027-1038.
Heymann JB, Vijayasarathy C, Huang RK, Dearborn AD, Sieving PA, Steven AC. PMID: 30630865; PMCID: PMC6400569.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
-
Trans-ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Gene Transduction after Intravitreal Vector Administration. Mol Ther Methods Clin Dev. 2019 Jun 14; 13:77-85.
Song H, Bush RA, Zeng Y, Qian H, Wu Z, Sieving PA. PMID: 30719486; PMCID: PMC6350231.
View in:
PubMed Mentions:
6
-
Neuroethics for the National Institutes of Health BRAIN Initiative. J Neurosci. 2018 12 12; 38(50):10583-10585.
Bianchi DW, Cooper JA, Gordon JA, Heemskerk J, Hodes R, Koob GF, Koroshetz WJ, Shurtleff D, Sieving PA, Volkow ND, Churchill JD, Ramos KM. PMID: 30541766; PMCID: PMC6297370.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
The National Eye Institute's Commitment to Career Development of Clinician-Scientists. JAMA Ophthalmol. 2018 12 01; 136(12):1340-1341.
Agarwal N, Steinmetz MA, Sieving P. PMID: 30267051.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. J Clin Invest. 2018 12 03; 128(12):5663-5675.
Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P. PMID: 30418171; PMCID: PMC6264655.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansAnimalsCells
-
Translational Retinal Research and Therapies. Transl Vis Sci Technol. 2018 Sep; 7(5):8.
Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD. PMID: 30225158; PMCID: PMC6138060.
View in:
PubMed Mentions:
8 Fields:
-
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 08; 14(8):e1007504.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. PMID: 30157172; PMCID: PMC6133373.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansAnimalsCells
-
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. Mol Ther. 2018 09 05; 26(9):2282-2294.
Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, Vijayasarathy C, Marangoni D, Ziccardi L, Kjellstrom S, Park TK, Hiriyanna S, Wright JF, Colosi P, Wu Z, Bush RA, Wei LL, Sieving PA. PMID: 30196853; PMCID: PMC6127971.
View in:
PubMed Mentions:
109 Fields:
Translation:
HumansCTClinical Trials
-
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Hum Genet. 2018 Jul; 137(6-7):447-458.
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. PMID: 29978320; PMCID: PMC6150774.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansCells
-
Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy. Ophthalmic Genet. 2018 08; 39(4):477-486.
MacDonald IM, Sieving PA. PMID: 29912604.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
3-D retina organoids: Building platforms for therapies of the future. Cell Med. 2018; 10:2155179018773758.
Mazerik JN, Becker S, Sieving PA. PMID: 32634188; PMCID: PMC6172996.
View in:
PubMed Mentions:
7
-
Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis. Invest Ophthalmol Vis Sci. 2018 06 01; 59(7):2841-2847.
Cukras CA, Huryn LA, Jeffrey BG, Turriff A, Sieving PA. PMID: 30025115; PMCID: PMC5987578.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
-
Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity. Invest Ophthalmol Vis Sci. 2018 04 01; 59(5):1953-1963.
Allahdina AM, Stetson PF, Vitale S, Wong WT, Chew EY, Ferris FL, Sieving PA, Cukras C. PMID: 29677357; PMCID: PMC5894928.
View in:
PubMed Mentions:
10 Fields:
Translation:
Humans
-
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol. 2018; 1074:229-236.
Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. PMID: 29721948.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Tissue engineering: NIH competition to create 'eye in a dish'. Nature. 2017 06 14; 546(7658):352.
Sieving PA. PMID: 28617468.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2218-2238.
Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. PMID: 28418496; PMCID: PMC5397137.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansCells
-
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. Retina. 2016 Dec; 36(12):2348-2356.
Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. PMID: 27388725; PMCID: PMC5115976.
View in:
PubMed Mentions:
25 Fields:
Translation:
Humans
-
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016 12 01; 48(12):922-927.
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R. PMID: 27764769; PMCID: PMC5206392.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. Invest Ophthalmol Vis Sci. 2016 07 01; 57(9):OCT277-87.
Zeng Y, Petralia RS, Vijayasarathy C, Wu Z, Hiriyanna S, Song H, Wang YX, Sieving PA, Bush RA. PMID: 27409484; PMCID: PMC4968785.
View in:
PubMed Mentions:
21 Fields:
Translation:
Animals
-
NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice. Invest Ophthalmol Vis Sci. 2016 05 01; 57(6):2864-75.
Song H, Vijayasarathy C, Zeng Y, Marangoni D, Bush RA, Wu Z, Sieving PA. PMID: 27233035; PMCID: PMC5113981.
View in:
PubMed Mentions:
13 Fields:
Translation:
AnimalsCells
-
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. Hum Gene Ther. 2016 May; 27(5):376-89.
Bush RA, Zeng Y, Colosi P, Kjellstrom S, Hiriyanna S, Vijayasarathy C, Santos M, Li J, Wu Z, Sieving PA. PMID: 27036983; PMCID: PMC4840830.
View in:
PubMed Mentions:
29 Fields:
Translation:
AnimalsCells
-
Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. Proc Natl Acad Sci U S A. 2016 May 10; 113(19):5287-92.
Tolun G, Vijayasarathy C, Huang R, Zeng Y, Li Y, Steven AC, Sieving PA, Heymann JB. PMID: 27114531; PMCID: PMC4868477.
View in:
PubMed Mentions:
34 Fields:
Translation:
AnimalsCells
-
Basic science: Bedrock of progress. Science. 2016 Mar 25; 351(6280):1405.
Collins FS, Anderson JM, Austin CP, Battey JF, Birnbaum LS, Briggs JP, Clayton JA, Cuthbert B, Eisinger RW, Fauci AS, Gallin JI, Gibbons GH, Glass RI, Gottesman MM, Gray PA, Green ED, Greider FB, Hodes R, Hudson KL, Humphreys B, Katz SI, Koob GF, Koroshetz WJ, Lauer MS, Lorsch JR, Lowy DR, McGowan JJ, Murray DM, Nakamura R, Norris A, Perez-Stable EJ, Pettigrew RI, Riley WT, Rodgers GP, Sieving PA, Somerman MJ, Spong CY, Tabak LA, Volkow ND, Wilder EL. PMID: 27013720; PMCID: PMC5101936.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansAnimals
-
Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. Mol Ther Methods Clin Dev. 2016; 5:16011.
Marangoni D, Bush RA, Zeng Y, Wei LL, Ziccardi L, Vijayasarathy C, Bartoe JT, Palyada K, Santos M, Hiriyanna S, Wu Z, Colosi P, Sieving PA. PMID: 27626041; PMCID: PMC5008245.
View in:
PubMed Mentions:
16
-
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. Invest Ophthalmol Vis Sci. 2015 Oct; 56(11):6810-22.
Marangoni D, Vijayasarathy C, Bush RA, Wei LL, Wen R, Sieving PA. PMID: 26567794; PMCID: PMC4627357.
View in:
PubMed Mentions:
6 Fields:
Translation:
AnimalsCells
-
Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. J Clin Invest. 2015 Jul 01; 125(7):2891-903.
Ou J, Vijayasarathy C, Ziccardi L, Chen S, Zeng Y, Marangoni D, Pope JG, Bush RA, Wu Z, Li W, Sieving PA. PMID: 26098217; PMCID: PMC4563692.
View in:
PubMed Mentions:
44 Fields:
Translation:
HumansAnimalsCells
-
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis. Cold Spring Harb Perspect Med. 2015 Jun 22; 5(8):a017368.
Bush RA, Wei LL, Sieving PA. PMID: 26101206; PMCID: PMC4526726.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansAnimals
-
A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Hum Mol Genet. 2015 Jul 15; 24(14):3956-70.
Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos MM, Gao C, Fariss R, Sieving PA, Li T, Colosi P, Swaroop A. PMID: 25877300; PMCID: PMC4476444.
View in:
PubMed Mentions:
40 Fields:
Translation:
HumansAnimalsCells
-
Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech. 2015 Feb; 8(2):109-29.
Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A. PMID: 25650393; PMCID: PMC4314777.
View in:
PubMed Mentions:
125 Fields:
Translation:
HumansAnimalsCells
-
Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits. Hum Gene Ther Clin Dev. 2014 Dec; 25(4):202-11.
Marangoni D, Wu Z, Wiley HE, Zeiss CJ, Vijayasarathy C, Zeng Y, Hiriyanna S, Bush RA, Wei LL, Colosi P, Sieving PA. PMID: 25211193; PMCID: PMC4275775.
View in:
PubMed Mentions:
14 Fields:
Translation:
AnimalsCells
-
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. Invest Ophthalmol Vis Sci. 2014 Nov 25; 56(1):107-14.
Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA. PMID: 25425308; PMCID: PMC4288141.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
-
Subjective and objective screening tests for hydroxychloroquine toxicity. Ophthalmology. 2015 Feb; 122(2):356-66.
Cukras C, Huynh N, Vitale S, Wong WT, Ferris FL, Sieving PA. PMID: 25444344; PMCID: PMC8356134.
View in:
PubMed Mentions:
26 Fields:
Translation:
Humans
-
Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis. Transl Vis Sci Technol. 2014 Sep; 3(5):5.
Jeffrey BG, Cukras CA, Vitale S, Turriff A, Bowles K, Sieving PA. PMID: 25346871; PMCID: PMC4187428.
View in:
PubMed Mentions:
28 Fields:
-
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. Invest Ophthalmol Vis Sci. 2014 Sep 09; 55(10):6301-8.
Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA. PMID: 25205868; PMCID: PMC4191169.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCellsCTClinical Trials
-
Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis. Invest Ophthalmol Vis Sci. 2014 Apr 25; 55(4):2659-68.
Song H, Bush RA, Vijayasarathy C, Fariss RN, Kjellstrom S, Sieving PA. PMID: 24651551; PMCID: PMC4001786.
View in:
PubMed Mentions:
13 Fields:
Translation:
AnimalsCells
-
Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness. Ophthalmic Genet. 2014 Mar; 35(1):51-6.
Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA. PMID: 24397708; PMCID: PMC8325388.
View in:
PubMed Mentions:
8 Fields:
Translation:
Humans
-
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration. Mol Vis. 2014; 20:1-14.
Li D, Jin C, Jiao X, Li L, Bushra T, Naeem MA, Butt NH, Husnain T, Sieving PA, Riazuddin S, Riazuddin SA, Hejtmancik JF. PMID: 24426771; PMCID: PMC3888496.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation. Adv Exp Med Biol. 2014; 801:559-66.
Ziccardi L, Vijayasarathy C, Bush RA, Sieving PA. PMID: 24664744; PMCID: PMC4212896.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
-
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Mol Vis. 2013; 19:2407-17.
Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP. PMID: 24319334; PMCID: PMC3850977.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
-
Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. Mol Vis. 2013; 19:2209-16.
D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X. PMID: 24227916; PMCID: PMC3820431.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
-
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations. JAMA Ophthalmol. 2013 Aug; 131(8):1016-25.
Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T. PMID: 23681342; PMCID: PMC4627494.
View in:
PubMed Mentions:
18 Fields:
Translation:
Humans
-
The golden era of ocular disease gene discovery: race to the finish. Clin Genet. 2013 Aug; 84(2):99-101.
Swaroop A, Sieving PA. PMID: 23713688; PMCID: PMC4240531.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. Mol Vis. 2013; 19:1554-64.
Kabir F, Naz S, Riazuddin SA, Naeem MA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 23878505; PMCID: PMC3716412.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Hum Mol Genet. 2013 Dec 01; 22(23):4756-67.
Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. PMID: 23847049; PMCID: PMC3820135.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansCells
-
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci. 2012 Dec 13; 53(13):8232-7.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. PMID: 23150612; PMCID: PMC3522443.
View in:
PubMed Mentions:
67 Fields:
Translation:
Humans
-
Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012; 7(11):e50205.
Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. PMID: 23189188; PMCID: PMC3506607.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansCells
-
NEI audacious goals initiative to catalyze innovation. Invest Ophthalmol Vis Sci. 2012 Oct; 53(11):7149-50.
Sieving PA. PMID: 23047720.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Fundus autofluorescence patterns in stargardt disease over time-reply. Arch Ophthalmol. 2012 Oct; 130(10):1354-5.
Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving P. PMID: 23753838; PMCID: PMC8409255.
View in:
PubMed Mentions:
1 Fields:
-
Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestin. J Neurosci. 2012 Sep 19; 32(38):13010-21.
Ziccardi L, Vijayasarathy C, Bush RA, Sieving PA. PMID: 22993419; PMCID: PMC3752084.
View in:
PubMed Mentions:
13 Fields:
Translation:
AnimalsCells
-
GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012 Mar; 53(3):1353-61.
Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. PMID: 22190596; PMCID: PMC3339909.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansAnimalsCells
-
Biology of retinoschisin. Adv Exp Med Biol. 2012; 723:513-8.
Vijayasarathy C, Ziccardi L, Sieving PA. PMID: 22183371; PMCID: PMC3475158.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansAnimals
-
CNTF and retina. Prog Retin Eye Res. 2012 Mar; 31(2):136-51.
Wen R, Tao W, Li Y, Sieving PA. PMID: 22182585; PMCID: PMC3288688.
View in:
PubMed Mentions:
97 Fields:
Translation:
HumansAnimalsCells
-
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci. 2011 Nov 29; 52(12):9250-6.
Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA. PMID: 22039241; PMCID: PMC3302432.
View in:
PubMed Mentions:
31 Fields:
Translation:
Humans
-
Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. Arch Ophthalmol. 2012 Feb; 130(2):171-9.
Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving PA. PMID: 21987580; PMCID: PMC3768260.
View in:
PubMed Mentions:
47 Fields:
Translation:
Humans
-
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Arch Ophthalmol. 2011 Oct; 129(10):1351-7.
Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 21987678; PMCID: PMC3463811.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis. 2011; 17:1373-80.
Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 21655355; PMCID: PMC3108895.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
-
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol. 2011 Jul; 95(7):1019-24.
Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 21447491; PMCID: PMC3459316.
View in:
PubMed Mentions:
20 Fields:
Translation:
Humans
-
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat. 2010 Nov; 31(11):1251-60.
Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA. PMID: 20809529; PMCID: PMC2991635.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansAnimalsCells
-
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct 08; 87(4):523-31.
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. PMID: 20850105; PMCID: PMC2948789.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansAnimalsCells
-
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Sep 10; 87(3):400-9.
Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. PMID: 20797688; PMCID: PMC2933346.
View in:
PubMed Mentions:
28 Fields:
Translation:
HumansAnimalsCells
-
Long-term 12 year follow-up of X-linked congenital retinoschisis. Ophthalmic Genet. 2010 Sep; 31(3):114-25.
Kjellström S, Vijayasarathy C, Ponjavic V, Sieving PA, Andréasson S. PMID: 20569020; PMCID: PMC2997439.
View in:
PubMed Mentions:
23 Fields:
Translation:
Humans
-
Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry. 2010 Aug 24; 49(33):7023-32.
Kotova S, Vijayasarathy C, Dimitriadis EK, Ikonomou L, Jaffe H, Sieving PA. PMID: 20677810; PMCID: PMC2929131.
View in:
PubMed Mentions:
10 Fields:
Translation:
AnimalsCells
-
Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration. Proc Natl Acad Sci U S A. 2010 Jul 13; 107(28):12710-5.
Raz-Prag D, Grimes WN, Fariss RN, Vijayasarathy C, Campos MM, Bush RA, Diamond JS, Sieving PA. PMID: 20616020; PMCID: PMC2906585.
View in:
PubMed Mentions:
12 Fields:
Translation:
AnimalsCells
-
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Br J Ophthalmol. 2010 Aug; 94(8):1094-9.
Shahzadi A, Riazuddin SA, Ali S, Li D, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 20538656; PMCID: PMC3393880.
View in:
PubMed Mentions:
19 Fields:
Translation:
HumansCells
-
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet. 2010 May 14; 86(5):805-12.
Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N. PMID: 20451172; PMCID: PMC2869005.
View in:
PubMed Mentions:
65 Fields:
Translation:
HumansCells
-
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. Am J Ophthalmol. 2010 May; 149(5):861-6.
Naz S, Riazuddin SA, Li L, Shahid M, Kousar S, Sieving PA, Hejtmancik JF, Riazuddin S. PMID: 20227676; PMCID: PMC3399686.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
At the frontier of vision research: the National Eye Institute celebrates 40 years. Am J Ophthalmol. 2010 Feb; 149(2):179-81.
Sieving PA. PMID: 20103048; PMCID: PMC2833339.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet. 2010 Apr 01; 19(7):1302-13.
Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. PMID: 20061330; PMCID: PMC2838538.
View in:
PubMed Mentions:
33 Fields:
Translation:
HumansCells
-
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond). 2010 May; 24(5):764-74.
Wu DM, Khanna H, Atmaca-Sonmez P, Sieving PA, Branham K, Othman M, Swaroop A, Daiger SP, Heckenlively JR. PMID: 19893586; PMCID: PMC2920623.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Invest Ophthalmol Vis Sci. 2009 Nov; 50(11):5375-83.
Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA. PMID: 19474399; PMCID: PMC2784021.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansAnimalsCells
-
Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther. 2009 Jul; 16(7):916-26.
Park TK, Wu Z, Kjellstrom S, Zeng Y, Bush RA, Sieving PA, Colosi P. PMID: 19458650; PMCID: PMC2774250.
View in:
PubMed Mentions:
79 Fields:
Translation:
HumansAnimalsCells
-
Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function. Proc Natl Acad Sci U S A. 2009 Jun 09; 106(23):9397-402.
Haruta M, Bush RA, Kjellstrom S, Vijayasarathy C, Zeng Y, Le YZ, Sieving PA. PMID: 19470639; PMCID: PMC2685247.
View in:
PubMed Mentions:
34 Fields:
Translation:
AnimalsCells
-
The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2009 Aug; 50(8):3977-84.
Luna G, Kjellstrom S, Verardo MR, Lewis GP, Byun J, Sieving PA, Fisher SK. PMID: 19387072; PMCID: PMC2735860.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
-
Photoreceptor protection by adeno-associated virus-mediated LEDGF expression in the RCS rat model of retinal degeneration: probing the mechanism. Invest Ophthalmol Vis Sci. 2009 Aug; 50(8):3897-906.
Raz-Prag D, Zeng Y, Sieving PA, Bush RA. PMID: 19324854; PMCID: PMC2744960.
View in:
PubMed Mentions:
10 Fields:
Translation:
AnimalsCells
-
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Mol Vis. 2008; 14:2227-36.
Ahmed ZM, Kjellstrom S, Haywood-Watson RJ, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. PMID: 19057657; PMCID: PMC2593751.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
-
Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin. J Neurosci. 2008 Nov 05; 28(45):11662-72.
Dizhoor AM, Woodruff ML, Olshevskaya EV, Cilluffo MC, Cornwall MC, Sieving PA, Fain GL. PMID: 18987202; PMCID: PMC2590870.
View in:
PubMed Mentions:
33 Fields:
Translation:
AnimalsCells
-
Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci. 2008 Aug; 49(8):3677-86.
Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA. PMID: 18660429; PMCID: PMC2556260.
View in:
PubMed Mentions:
56 Fields:
Translation:
AnimalsCells
-
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol. 2008 Mar; 126(3):424-5.
Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA, National Ophthalmic Disease Genotyping Network (eyeGENE). PMID: 18332328; PMCID: PMC2821692.
View in:
PubMed Mentions:
10 Fields:
Translation:
Humans
-
Organization and molecular interactions of retinoschisin in photoreceptors. Adv Exp Med Biol. 2008; 613:291-7.
Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. PMID: 18188957.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansAnimalsCells
-
Photopic ERG negative response from amacrine cell signaling in RCS rat retinal degeneration. Invest Ophthalmol Vis Sci. 2008 Jan; 49(1):442-52.
Machida S, Raz-Prag D, Fariss RN, Sieving PA, Bush RA. PMID: 18172124.
View in:
PubMed Mentions:
35 Fields:
Translation:
AnimalsCells
-
Eyeing a new network. Science. 2007 Nov 16; 318(5853):1068.
MacDonald IM, Brooks BP, Sieving PA. PMID: 18006726.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. J Neurosci. 2007 Aug 15; 27(33):8805-15.
Woodruff ML, Olshevskaya EV, Savchenko AB, Peshenko IV, Barrett R, Bush RA, Sieving PA, Fain GL, Dizhoor AM. PMID: 17699662; PMCID: PMC2673730.
View in:
PubMed Mentions:
52 Fields:
Translation:
AnimalsCells
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci. 2007 Aug; 48(8):3864-71.
Khan NW, Wissinger B, Kohl S, Sieving PA. PMID: 17652762.
View in:
PubMed Mentions:
50 Fields:
Translation:
HumansCells
-
Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci. 2007 Aug; 48(8):3837-45.
Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. PMID: 17652759.
View in:
PubMed Mentions:
68 Fields:
Translation:
AnimalsCells
-
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet. 2007 Nov; 122(3-4):293-9.
Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF. PMID: 17605048.
View in:
PubMed Mentions:
59 Fields:
Translation:
HumansCells
-
Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. Can J Ophthalmol. 2007 Jun; 42(3):399-402.
MacDonald IM, Sauvé Y, Sieving PA. PMID: 17508034.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
-
Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci. 2007 Mar; 48(3):991-1000.
Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. PMID: 17325137.
View in:
PubMed Mentions:
33 Fields:
Translation:
AnimalsCells
-
Genetic ophthalmology and the era of clinical care. JAMA. 2007 Feb 21; 297(7):733-6.
Sieving PA, Collins FS. PMID: 17315303.
View in:
PubMed Mentions:
12 Fields:
Translation:
Humans
-
Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol. 2007 Feb; 125(2):252-8.
Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. PMID: 17296903.
View in:
PubMed Mentions:
15 Fields:
Translation:
Humans
-
Regulation of rod phototransduction machinery by ciliary neurotrophic factor. J Neurosci. 2006 Dec 27; 26(52):13523-30.
Wen R, Song Y, Kjellstrom S, Tanikawa A, Liu Y, Li Y, Zhao L, Bush RA, Laties AM, Sieving PA. PMID: 17192435; PMCID: PMC6674721.
View in:
PubMed Mentions:
48 Fields:
Translation:
HumansAnimalsCells
-
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis. 2006 Oct 26; 12:1283-91.
Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF. PMID: 17110911.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2006 Oct; 47(10):4558-68.
Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N, Sieving PA, Ayyagari R. PMID: 17003453.
View in:
PubMed Mentions:
36 Fields:
Translation:
AnimalsCells
-
Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol Vis. 2006 Sep 28; 12:1108-16.
Takada Y, Fariss RN, Muller M, Bush RA, Rushing EJ, Sieving PA. PMID: 17093404.
View in:
PubMed Mentions:
31 Fields:
Translation:
HumansAnimals
-
Congenital X-linked retinoschisis classification system. Retina. 2006 Sep; 26(7 Suppl):S61-4.
Prenner JL, Capone A, Ciaccia S, Takada Y, Sieving PA, Trese MT. PMID: 16946682.
View in:
PubMed Mentions:
36 Fields:
Translation:
HumansCells
-
RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism. PLoS Genet. 2006 Oct; 2(10):e177.
Aslanukov A, Bhowmick R, Guruju M, Oswald J, Raz D, Bush RA, Sieving PA, Lu X, Bock CB, Ferreira PA. PMID: 17069463; PMCID: PMC1626108.
View in:
PubMed Mentions:
57 Fields:
Translation:
AnimalsCells
-
Identification and characterization of two mature isoforms of retinoschisin in murine retina. Biochem Biophys Res Commun. 2006 Oct 13; 349(1):99-105.
Vijayasarathy C, Gawinowicz MA, Zeng Y, Takada Y, Bush RA, Sieving PA. PMID: 16930543; PMCID: PMC1852445.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
-
Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Invest Ophthalmol Vis Sci. 2006 Aug; 47(8):3603-11.
Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N, Petrukhin K, Sieving PA. PMID: 16877435; PMCID: PMC1761696.
View in:
PubMed Mentions:
22 Fields:
Translation:
Animals
-
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci. 2006 Jul; 47(7):3074-84.
Haywood-Watson RJ, Ahmed ZM, Kjellstrom S, Bush RA, Takada Y, Hampton LL, Battey JF, Sieving PA, Friedman TB. PMID: 16799054.
View in:
PubMed Mentions:
23 Fields:
Translation:
AnimalsCells
-
Response to: "Rescuing the NIH before it is too late". J Clin Invest. 2006 Jun; 116(6):1462-3.
Alexander DF, Alving BM, Battey JF, Berg JM, Collins FS, Fauci AS, Gallin JI, Grady PA, Hodes RJ, Hrynkow SH, Insel TR, Jones JF, Katz SI, Landis SC, Li TK, Lindberg DA, Nabel EG, Niederhuber JE, Pettigrew RI, Rodgers GP, Ruffin J, Scarpa A, Schwartz DA, Sieving PA, Straus SE, Tabak LA, Volkow ND. PMID: 16648877; PMCID: PMC1449952.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants. Proc Natl Acad Sci U S A. 2006 Mar 07; 103(10):3896-901.
Sieving PA, Caruso RC, Tao W, Coleman HR, Thompson DJ, Fullmer KR, Bush RA. PMID: 16505355; PMCID: PMC1383495.
View in:
PubMed Mentions:
206 Fields:
Translation:
HumansCellsCTClinical Trials
-
Fostering partnerships: The National Institutes of Health (NIH) Mission. Retina. 2005 Dec; 25(8 Suppl):S84-S85.
Sieving PA. PMID: 16374355.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
The national eye institute: translational clinical research initiatives on inherited and orphan retinal diseases: personal observations. Retina. 2005 Dec; 25(8 Suppl):S8-S9.
Sieving PA. PMID: 16374351.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. Mol Vis. 2005 Nov 14; 11:977-85.
Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. PMID: 16319817.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15; 14(24):3865-75.
Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. PMID: 16269441.
View in:
PubMed Mentions:
49 Fields:
Translation:
HumansAnimalsCells
-
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet. 2005 Dec; 118(3-4):356-65.
Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. PMID: 16189710.
View in:
PubMed Mentions:
18 Fields:
Translation:
HumansCells
-
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3355-62.
Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. PMID: 16123440.
View in:
PubMed Mentions:
24 Fields:
Translation:
HumansCells
-
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3363-71.
Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. PMID: 16123441.
View in:
PubMed Mentions:
64 Fields:
Translation:
HumansCells
-
Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol Vis. 2005 Aug 30; 11:665-76.
Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R. PMID: 16163264.
View in:
PubMed Mentions:
35 Fields:
Translation:
AnimalsCells
-
Loss of circadian photoentrainment and abnormal retinal electrophysiology in Math5 mutant mice. Invest Ophthalmol Vis Sci. 2005 Jul; 46(7):2540-51.
Brzezinski JA, Brown NL, Tanikawa A, Bush RA, Sieving PA, Vitaterna MH, Takahashi JS, Glaser T. PMID: 15980246; PMCID: PMC1570190.
View in:
PubMed Mentions:
33 Fields:
Translation:
AnimalsCells
-
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jul; 46(7):2264-70.
Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. PMID: 15980210.
View in:
PubMed Mentions:
26 Fields:
Translation:
HumansCells
-
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar; 13(3):302-8.
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. PMID: 15657609.
View in:
PubMed Mentions:
115 Fields:
Translation:
HumansAnimalsCells
-
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Invest Ophthalmol Vis Sci. 2004 Sep; 45(9):3279-85.
Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. PMID: 15326152.
View in:
PubMed Mentions:
97 Fields:
Translation:
HumansAnimals
-
A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci. 2004 Sep; 45(9):3302-12.
Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R, Sieving PA. PMID: 15326155.
View in:
PubMed Mentions:
53 Fields:
Translation:
AnimalsCells
-
Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. J Neurophysiol. 2005 Jan; 93(1):481-92.
Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA. PMID: 15331616.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansAnimals
-
Encapsulated cell-based intraocular delivery of ciliary neurotrophic factor in normal rabbit: dose-dependent effects on ERG and retinal histology. Invest Ophthalmol Vis Sci. 2004 Jul; 45(7):2420-30.
Bush RA, Lei B, Tao W, Raz D, Chan CC, Cox TA, Santos-Muffley M, Sieving PA. PMID: 15223826.
View in:
PubMed Mentions:
36 Fields:
Translation:
Animals
-
Healthy Vision Month--May 2004: focus is on diabetic retinopathy. Optometry. 2004 May; 75(5):271-3.
Sieving PA. PMID: 15141816.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Invest Ophthalmol Vis Sci. 2004 May; 45(5):1456-63.
McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. PMID: 15111602.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansCells
-
Limits to growth: why neuroscience needs large-scale science. Nat Neurosci. 2004 May; 7(5):426-7.
Insel TR, Volkow ND, Landis SC, Li TK, Battey JF, Sieving P, National Institutes of Health. PMID: 15114352.
View in:
PubMed Mentions:
10 Fields:
Translation:
Humans
-
Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics. 2004 Apr; 83(4):626-35.
Mandal MN, Ambasudhan R, Wong PW, Gage PJ, Sieving PA, Ayyagari R. PMID: 15028285.
View in:
PubMed Mentions:
48 Fields:
Translation:
AnimalsCells
-
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 2004 Apr; 83(4):615-25.
Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R. PMID: 15028284.
View in:
PubMed Mentions:
30 Fields:
Translation:
HumansAnimalsCells
-
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet. 2004 Mar; 74(3):482-94.
Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A. PMID: 14968411; PMCID: PMC1182262.
View in:
PubMed Mentions:
51 Fields:
Translation:
Humans
-
Long anterior zonules and pigment dispersion. Am J Ophthalmol. 2003 Dec; 136(6):1176-8.
Moroi SE, Lark KK, Sieving PA, Nouri-Mahdavi K, Schlötzer-Schrehardt U, Katz GJ, Ritch R. PMID: 14644241.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec; 24(4):191-202.
Schimmenti LA, Manligas GS, Sieving PA. PMID: 14566649.
View in:
PubMed Mentions:
14 Fields:
Translation:
Humans
-
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003 Dec 15; 12(24):3215-23.
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PMID: 14570705.
View in:
PubMed Mentions:
129 Fields:
Translation:
HumansAnimalsCells
-
Clinical diagnoses that overlap with choroideremia. Can J Ophthalmol. 2003 Aug; 38(5):364-72; quiz 372.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. PMID: 12956277.
View in:
PubMed Mentions:
12 Fields:
Translation:
Humans
-
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4742-7.
Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. PMID: 12671074; PMCID: PMC153626.
View in:
PubMed Mentions:
99 Fields:
Translation:
HumansAnimalsCells
-
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2003 Feb 18; 9:49-51.
Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. PMID: 12592226.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. Mol Vis. 2003 Jan 24; 9:14-7.
Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. PMID: 12552256.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 Aug; 80(2):166-71.
Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. PMID: 12160730.
View in:
PubMed Mentions:
52 Fields:
Translation:
HumansCells
-
Post-photoreceptoral activity dominates primate photopic 32-Hz ERG for sine-, square-, and pulsed stimuli. Invest Ophthalmol Vis Sci. 2002 Jul; 43(7):2500-7.
Kondo M, Sieving PA. PMID: 12091456.
View in:
PubMed Mentions:
29 Fields:
Translation:
AnimalsCells
-
Retinal cAMP levels during the progression of retinal degeneration in rhodopsin P23H and S334ter transgenic rats. Invest Ophthalmol Vis Sci. 2002 May; 43(5):1655-61.
Traverso V, Bush RA, Sieving PA, Deretic D. PMID: 11980887.
View in:
PubMed Mentions:
19 Fields:
Translation:
AnimalsCells
-
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun; 70(6):1545-54.
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. PMID: 11992260; PMCID: PMC379141.
View in:
PubMed Mentions:
129 Fields:
Translation:
HumansCells
-
Clinical course and visual function in a family with mutations in the RPE65 gene. Arch Ophthalmol. 2002 Jan; 120(1):55-61.
Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA. PMID: 11786058.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansCells
-
Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res. 2001 Dec; 41(28):3931-42.
Khan NW, Jamison JA, Kemp JA, Sieving PA. PMID: 11738458.
View in:
PubMed Mentions:
40 Fields:
Translation:
HumansCells
-
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. 2001 Dec; 22(4):233-9.
Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R. PMID: 11803489.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
-
Nrl is required for rod photoreceptor development. Nat Genet. 2001 Dec; 29(4):447-52.
Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A. PMID: 11694879.
View in:
PubMed Mentions:
463 Fields:
Translation:
AnimalsCells
-
Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation. Arch Ophthalmol. 2001 Nov; 119(11):1719-21.
Weinberg DV, Sieving PA, Bingham EL, Jampol LM, Mets MB. PMID: 11709029.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss. J Neurosci. 2001 Aug 01; 21(15):5449-60.
Sieving PA, Fowler ML, Bush RA, Machida S, Calvert PD, Green DG, Makino CL, McHenry CL. PMID: 11466416; PMCID: PMC6762654.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansAnimalsCells
-
Fifteen years of work: the COMS outcomes for medium-sized choroidal melanoma. Arch Ophthalmol. 2001 Jul; 119(7):1067-8.
Sieving PA. PMID: 11448330.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet. 2001 Jun; 28(2):123-4.
Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. PMID: 11381255.
View in:
PubMed Mentions:
77 Fields:
Translation:
HumansAnimalsCells
-
Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background. Vis Neurosci. 2001 May-Jun; 18(3):437-43.
Humphries MM, Kiang S, McNally N, Donovan MA, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar J, Humphries P, Kenna P. PMID: 11497420.
View in:
PubMed Mentions:
12 Fields:
Translation:
AnimalsCells
-
Characterization of the rod photoresponse isolated from the dark-adapted primate ERG. Vis Neurosci. 2001 May-Jun; 18(3):445-55.
Jamison JA, Bush RA, Lei B, Sieving PA. PMID: 11497421.
View in:
PubMed Mentions:
34 Fields:
Translation:
AnimalsCells
-
Lens epithelium-derived growth factor promotes photoreceptor survival in light-damaged and RCS rats. Invest Ophthalmol Vis Sci. 2001 Apr; 42(5):1087-95.
Machida S, Chaudhry P, Shinohara T, Singh DP, Reddy VN, Chylack LT, Sieving PA, Bush RA. PMID: 11274090.
View in:
PubMed Mentions:
34 Fields:
Translation:
AnimalsCellsPHPublic Health
-
Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Proc Natl Acad Sci U S A. 2001 Feb 13; 98(4):1835-40.
Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. PMID: 11172037; PMCID: PMC29343.
View in:
PubMed Mentions:
58 Fields:
Translation:
AnimalsCells
-
Primate photopic sine-wave flicker ERG: vector modeling analysis of component origins using glutamate analogs. Invest Ophthalmol Vis Sci. 2001 Jan; 42(1):305-12.
Kondo M, Sieving PA. PMID: 11133883.
View in:
PubMed Mentions:
55 Fields:
Translation:
AnimalsCells
-
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001 Jan; 27(1):89-93.
Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. PMID: 11138005.
View in:
PubMed Mentions:
190 Fields:
Translation:
HumansAnimalsCells
-
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2000 Dec; 41(13):4293-9.
Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. PMID: 11095629.
View in:
PubMed Mentions:
110 Fields:
Translation:
Humans
-
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet. 2000 Oct; 67(4):1000-3.
Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. PMID: 10970770; PMCID: PMC1287869.
View in:
PubMed Mentions:
25 Fields:
Translation:
HumansCells
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000 Sep 01; 9(14):2107-16.
Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. PMID: 10958649.
View in:
PubMed Mentions:
115 Fields:
Translation:
HumansAnimalsCells
-
P23H rhodopsin transgenic rat: correlation of retinal function with histopathology. Invest Ophthalmol Vis Sci. 2000 Sep; 41(10):3200-9.
Machida S, Kondo M, Jamison JA, Khan NW, Kononen LT, Sugawara T, Bush RA, Sieving PA. PMID: 10967084.
View in:
PubMed Mentions:
106 Fields:
Translation:
AnimalsCells
-
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol. 2000 Aug; 118(8):1098-104.
Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, Ehinger B, Sieving PA. PMID: 10922205.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansCells
-
The effect of calcium channel blocker diltiazem on photoreceptor degeneration in the rhodopsin Pro213His rat. Invest Ophthalmol Vis Sci. 2000 Aug; 41(9):2697-701.
Bush RA, Kononen L, Machida S, Sieving PA. PMID: 10937585.
View in:
PubMed Mentions:
17 Fields:
Translation:
AnimalsCells
-
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum Genet. 2000 Jul; 107(1):75-82.
Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA. PMID: 10982039.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Retinal toxicity of commercial intravitreal tissue plasminogen activator solution in cat eyes. Arch Ophthalmol. 2000 May; 118(5):659-63.
Hrach CJ, Johnson MW, Hassan AS, Lei B, Sieving PA, Elner VM. PMID: 10815158.
View in:
PubMed Mentions:
18 Fields:
Translation:
Animals
-
Quantitative relationship of the scotopic and photopic ERG to photoreceptor cell loss in light damaged rats. Exp Eye Res. 2000 May; 70(5):693-705.
Sugawara T, Sieving PA, Bush RA. PMID: 10870528.
View in:
PubMed Mentions:
23 Fields:
Translation:
AnimalsCells
-
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 2000 Jan; 41(1):248-55.
Griesinger IB, Sieving PA, Ayyagari R. PMID: 10634627.
View in:
PubMed Mentions:
11 Fields:
Translation:
HumansCells
-
Human melanoma-associated retinopathy (MAR) antibodies alter the retinal ON-response of the monkey ERG in vivo. Invest Ophthalmol Vis Sci. 2000 Jan; 41(1):262-6.
Lei B, Bush RA, Milam AH, Sieving PA. PMID: 10634629.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansAnimalsCells
-
Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Arch Ophthalmol. 2000 Jan; 118(1):85-92.
Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. PMID: 10636420.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
-
Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol. 1999 Aug; 128(2):179-84.
Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. PMID: 10458173.
View in:
PubMed Mentions:
33 Fields:
Translation:
HumansCells
-
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. Mol Vis. 1999 Jul 28; 5:13.
Ayyagari R, Kakuk LE, Coats CL, Bingham EL, Toda Y, Felius J, Sieving PA. PMID: 10427103.
View in:
PubMed Mentions:
31 Fields:
Translation:
HumansCells
-
Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene. Hum Mol Genet. 1999 Jul; 8(7):1309-12.
McNally N, Kenna P, Humphries MM, Hobson AH, Khan NW, Bush RA, Sieving PA, Humphries P, Farrar GJ. PMID: 10369877.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansAnimalsCells
-
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999 May 15; 58(1):98-101.
Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. PMID: 10331951.
View in:
PubMed Mentions:
39 Fields:
Translation:
Humans
-
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1999 Mar; 64(3):897-900.
Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. PMID: 10053026; PMCID: PMC1377809.
View in:
PubMed Mentions:
25 Fields:
Translation:
HumansCells
-
The electroretinogram of the rhodopsin knockout mouse. Vis Neurosci. 1999 Mar-Apr; 16(2):391-8.
Toda K, Bush RA, Humphries P, Sieving PA. PMID: 10367972.
View in:
PubMed Mentions:
37 Fields:
Translation:
AnimalsCells
-
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genet. 1999 Mar; 20(1):37-43.
Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML. PMID: 10415464.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22. Genomics. 1999 Feb 01; 55(3):275-83.
Walpole SM, Hiriyana KT, Nicolaou A, Bingham EL, Durham J, Vaudin M, Ross MT, Yates JR, Sieving PA, Trump D. PMID: 10049581.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansAnimalsCells
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet. 1999 Feb; 8(2):299-305.
Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. PMID: 9931337.
View in:
PubMed Mentions:
70 Fields:
Translation:
HumansCells
-
Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease. Trans Am Ophthalmol Soc. 1999; 97:451-64; discussion 464-9.
Sieving PA, Yashar BM, Ayyagari R. PMID: 10703138; PMCID: PMC1298274.
View in:
PubMed Mentions:
7 Fields:
Translation:
HumansCells
-
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum Mutat. 1999; 14(5):423-7.
Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. PMID: 10533068.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
-
The melatonin antagonist luzindole protects retinal photoreceptors from light damage in the rat. Invest Ophthalmol Vis Sci. 1998 Nov; 39(12):2458-65.
Sugawara T, Sieving PA, Iuvone PM, Bush RA. PMID: 9804154.
View in:
PubMed Mentions:
27 Fields:
Translation:
AnimalsCellsPHPublic Health
-
Submicrovolt flicker electroretinogram: cycle-by-cycle recording of multiple harmonics with statistical estimation of measurement uncertainty. Invest Ophthalmol Vis Sci. 1998 Jul; 39(8):1462-9.
Sieving PA, Arnold EB, Jamison J, Liepa A, Coats C. PMID: 9660495.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans
-
Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth. Am J Med Genet. 1998 Jan 06; 75(1):13-7.
Innis JW, Sieving PA, McMillan P, Weatherly RA. PMID: 9450850.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1997 Dec; 61(6):1287-92.
Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. PMID: 9399904; PMCID: PMC1716085.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansCells
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 1997 Dec; 19(6):1329-36.
Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. PMID: 9427255.
View in:
PubMed Mentions:
90 Fields:
Translation:
HumansCells
-
Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics. 1997 Oct 15; 45(2):395-401.
Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A. PMID: 9344665.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansAnimalsCells
-
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet. 1997 Sep; 61(3):571-80.
Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A. PMID: 9326322; PMCID: PMC1715956.
View in:
PubMed Mentions:
21 Fields:
Translation:
HumansCells
-
Increased phase lag of the fundamental harmonic component of the 30 Hz flicker ERG in Schubert-Bornschein complete type CSNB. Vision Res. 1997 Sep; 37(17):2471-5.
Kim SH, Bush RA, Sieving PA. PMID: 9381682.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansAnimalsCells
-
Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet. 1997 Feb; 15(2):216-9.
Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P. PMID: 9020854.
View in:
PubMed Mentions:
246 Fields:
Translation:
AnimalsCells
-
X-linked juvenile retinoschisis: localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC. Hum Hered. 1996 Nov-Dec; 46(6):329-35.
Pawar H, Bingham EL, Hiriyanna K, Segal M, Richards JE, Sieving PA. PMID: 8956029.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Summation of rod and S cone signals at threshold in human observers. Vision Res. 1996 Sep; 36(17):2681-8.
Naarendorp F, Rice KS, Sieving PA. PMID: 8917755.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. Hum Hered. 1996 Jul-Aug; 46(4):211-20.
Hou YC, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA. PMID: 8807324.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. Am J Hum Genet. 1996 Jul; 59(1):152-8.
Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A. PMID: 8659520; PMCID: PMC1915116.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansCells
-
Inner retinal contributions to the primate photopic fast flicker electroretinogram. J Opt Soc Am A Opt Image Sci Vis. 1996 Mar; 13(3):557-65.
Bush RA, Sieving PA. PMID: 8627412.
View in:
PubMed Mentions:
59 Fields:
Translation:
AnimalsCells
-
Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation. Trans Am Ophthalmol Soc. 1996; 94:275-94; discussion 295-7.
Sieving PA, Boskovich S, Bingham E, Pawar H. PMID: 8981701; PMCID: PMC1312100.
View in:
PubMed Mentions:
5 Fields:
Translation:
Humans
-
A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1. Mol Vis. 1995 Dec 05; 1:3.
Fujita R, Blumberg M, Anderson D, Forsythe P, McHenry C, Yan D, Yang-Feng TL, Sieving PA, Swaroop A. PMID: 9238081.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Diagnostic issues with inherited retinal and macular dystrophies. Semin Ophthalmol. 1995 Dec; 10(4):279-94.
Sieving PA. PMID: 10160215.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
-
Preservation of inner retinal responses in the aged Royal College of Surgeons rat. Evidence against glutamate excitotoxicity in photoreceptor degeneration. Invest Ophthalmol Vis Sci. 1995 Sep; 36(10):2054-62.
Bush RA, Hawks KW, Sieving PA. PMID: 7657544.
View in:
PubMed Mentions:
22 Fields:
Translation:
AnimalsCells
-
Refined genetic mapping of juvenile X-linked retinoschisis. Hum Hered. 1995 Jul-Aug; 45(4):206-10.
Pawar H, Bingham EL, Lunetta KL, Segal M, Richards JE, Boehnke M, Sieving PA. PMID: 7558052.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
-
Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmology. 1995 Apr; 102(4):669-77.
Richards JE, Scott KM, Sieving PA. PMID: 7724183.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansCells
-
Evidence for two sites of adaptation affecting the dark-adapted ERG of cats and primates. Vision Res. 1995 Feb; 35(3):435-42.
Frishman LJ, Sieving PA. PMID: 7892737.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansAnimals
-
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3):880-4.
Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. PMID: 7846071; PMCID: PMC42724.
View in:
PubMed Mentions:
51 Fields:
Translation:
HumansCells
-
Dinucleotide repeat polymorphism at the DXS977 locus. Hum Mol Genet. 1994 Jun; 3(6):1030.
Yan D, Wong D, Zheng K, Thiselton D, Fujita R, Sieving PA, Bhattacharya SS, Yang-Feng TL, Richards JE, Swaroop A. PMID: 7951222.
View in:
PubMed Mentions: Fields:
Translation:
HumansCells
-
Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave. Vis Neurosci. 1994 May-Jun; 11(3):519-32.
Sieving PA, Murayama K, Naarendorp F. PMID: 8038126.
View in:
PubMed Mentions:
145 Fields:
Translation:
AnimalsCells
-
A proximal retinal component in the primate photopic ERG a-wave. Invest Ophthalmol Vis Sci. 1994 Feb; 35(2):635-45.
Bush RA, Sieving PA. PMID: 8113014.
View in:
PubMed Mentions:
102 Fields:
Translation:
AnimalsCells
-
'Unilateral cone dystrophy': ERG changes implicate abnormal signaling by hyperpolarizing bipolar and/or horizontal cells. Trans Am Ophthalmol Soc. 1994; 92:459-71; discussion 471-4.
Sieving PA. PMID: 7886877; PMCID: PMC1298521.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Dopaminergic modulation of rod pathway signals does not affect the scotopic ERG of cat at dark-adapted threshold. J Neurophysiol. 1993 Oct; 70(4):1681-91.
Naarendorp F, Hitchock PF, Sieving PA. PMID: 8283223.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
-
Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task. Vision Res. 1993 Jul; 33(11):1509-24.
Geller AM, Sieving PA. PMID: 8351823.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansCells
-
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993 Jul; 53(1):80-9.
Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al. PMID: 8317502; PMCID: PMC1682214.
View in:
PubMed Mentions:
37 Fields:
Translation:
HumansCells
-
Photopic ON- and OFF-pathway abnormalities in retinal dystrophies. Trans Am Ophthalmol Soc. 1993; 91:701-73.
Sieving PA. PMID: 8140708; PMCID: PMC1298484.
View in:
PubMed Mentions:
59 Fields:
Translation:
HumansAnimalsCells
-
Effect on grating identification of sampling with degenerate arrays. J Opt Soc Am A. 1992 Mar; 9(3):472-7.
Geller AM, Sieving PA, Green DG. PMID: 1548555.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. Ophthalmology. 1991 Dec; 98(12):1797-805.
Richards JE, Kuo CY, Boehnke M, Sieving PA. PMID: 1775313.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
Fenestrated sheen macular dystrophy. Am J Ophthalmol. 1991 Jul 15; 112(1):1-7.
Sneed SR, Sieving PA. PMID: 1882912.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. Arch Ophthalmol. 1991 Mar; 109(3):373-8.
Arrindell EL, Trobe JD, Sieving PA, Barnett JL. PMID: 1848426.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
-
The scotopic threshold response of the cat ERG is suppressed selectively by GABA and glycine. Vision Res. 1991; 31(1):1-15.
Naarendorp F, Sieving PA. PMID: 2006543.
View in:
PubMed Mentions:
31 Fields:
Translation:
Animals
-
Idiopathic photoreceptor dysfunction causes unexplained visual acuity loss in later adulthood. Ophthalmology. 1990 Dec; 97(12):1632-7.
Rowe SE, Trobe JD, Sieving PA. PMID: 2087294.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. Am J Hum Genet. 1990 Oct; 47(4):616-21.
Sieving PA, Bingham EL, Roth MS, Young MR, Boehnke M, Kuo CY, Ginsburg D. PMID: 1977307; PMCID: PMC1683777.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansCells
-
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis. Am J Ophthalmol. 1989 Apr 15; 107(4):426-8.
Ticho B, Sieving PA. PMID: 2929712.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Scotopic threshold response (STR) of the human electroretinogram. Invest Ophthalmol Vis Sci. 1988 Nov; 29(11):1608-14.
Sieving PA, Nino C. PMID: 3182195.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells
-
Aspartate separation of the scotopic threshold response (STR) from the photoreceptor a-wave of the cat and monkey ERG. Invest Ophthalmol Vis Sci. 1988 Nov; 29(11):1615-22.
Wakabayashi K, Gieser J, Sieving PA. PMID: 3182196.
View in:
PubMed Mentions:
15 Fields:
Translation:
AnimalsCells
-
Foveal retinoschisis associated with senile retinoschisis in a woman. Am J Ophthalmol. 1988 Jul 15; 106(1):107-9.
Han DP, Sieving PA, Johnson MW, Martonyi CL. PMID: 3394761.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Contributions to the electroretinogram of currents originating in proximal retina. Vis Neurosci. 1988; 1(3):307-15.
Frishman LJ, Sieving PA, Steinberg RH. PMID: 3154802.
View in:
PubMed Mentions:
3 Fields:
Translation:
Animals
-
Proximal retinal contribution to the intraretinal 8-Hz pattern ERG of cat. J Neurophysiol. 1987 Jan; 57(1):104-20.
Sieving PA, Steinberg RH. PMID: 3559667.
View in:
PubMed Mentions:
21 Fields:
Translation:
Animals
-
Scotopic threshold response of proximal retina in cat. J Neurophysiol. 1986 Oct; 56(4):1049-61.
Sieving PA, Frishman LJ, Steinberg RH. PMID: 3783228.
View in:
PubMed Mentions:
52 Fields:
Translation:
AnimalsCells
-
M-wave of proximal retina in cat. J Neurophysiol. 1986 Oct; 56(4):1039-48.
Sieving PA, Frishman LJ, Steinberg RH. PMID: 3783227.
View in:
PubMed Mentions:
4 Fields:
Translation:
Animals
-
Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol. 1986 Mar 15; 101(3):361-7.
Sieving PA, Niffenegger JH, Berson EL. PMID: 3953730.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansCells
-
Contribution from proximal retina to intraretinal pattern ERG: the M-wave. Invest Ophthalmol Vis Sci. 1985 Nov; 26(11):1642-7.
Sieving PA, Steinberg RH. PMID: 4055298.
View in:
PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
-
Multiple evanescent white dot syndrome. II. Electrophysiology of the photoreceptors during retinal pigment epithelial disease. Arch Ophthalmol. 1984 May; 102(5):675-9.
Sieving PA, Fishman GA, Jampol LM, Pugh D. PMID: 6721750.
View in:
PubMed Mentions:
30 Fields:
Translation:
HumansCells
-
Multiple evanescent white dot syndrome. I. Clinical findings. Arch Ophthalmol. 1984 May; 102(5):671-4.
Jampol LM, Sieving PA, Pugh D, Fishman GA, Gilbert H. PMID: 6721749.
View in:
PubMed Mentions:
101 Fields:
Translation:
Humans
-
Acute macular neuroretinopathy: early receptor potential change suggests photoreceptor pathology. Br J Ophthalmol. 1984 Apr; 68(4):229-34.
Sieving PA, Fishman GA, Salzano T, Rabb MF. PMID: 6704358; PMCID: PMC1040302.
View in:
PubMed Mentions:
8 Fields:
Translation:
HumansCells
-
Early receptor potential measurements in human ocular siderosis. Arch Ophthalmol. 1983 Nov; 101(11):1716-20.
Sieving PA, Fishman GA, Alexander KR, Goldberg MF. PMID: 6639427.
View in:
PubMed Mentions:
6 Fields:
Translation:
HumansCells
-
Calibration error in dark adaptometer. Arch Ophthalmol. 1978 Jun; 96(6):1082-3.
Maggiano JM, Fishman GA, Evans LS, Sieving P, Goldbaum M. PMID: 655945.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Corneal wick electrode for recording bright flash electroretinograms and early receptor potentials. Arch Ophthalmol. 1978 May; 96(5):899-900.
Sieving PA, Fishman GA, Maggiano JM. PMID: 655931.
View in:
PubMed Mentions:
8 Fields:
Translation:
Humans
-
Refractive errors of retinitis pigmentosa patients. Br J Ophthalmol. 1978 Mar; 62(3):163-7.
Sieving PA, Fishman GA. PMID: 638108; PMCID: PMC1043172.
View in:
PubMed Mentions:
27 Fields:
Translation:
Humans