Madelena M Martin

Title(s)Professor of Clinical, MED: Pediatrics
SchoolSchool of Medicine
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Wieacker-Wolff syndrome with associated cleft palate in a female case. Am J Med Genet A. 2018 01; 176(1):167-170. Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. PMID: 29150902.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    2. Menkes Disease Mimicking Child Abuse. Pediatr Dermatol. 2017 May; 34(3):e132-e134. Droms RJ, Rork JF, McLean R, Martin M, Belazarian L, Wiss K. PMID: 28318055.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    3. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J Pediatr. 2011 Oct; 159(4):623-7.e1. Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. PMID: 21489556; PMCID: PMC3935241.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    4. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol. 2009 Dec; 133(3):287-94. Borzutzky A, Crompton B, Bergmann AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD. PMID: 19740703; PMCID: PMC2783538.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    5. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A. 2007 Feb 01; 143A(3):292-300. Skjei KL, Martin MM, Slavotinek AM. PMID: 17230487.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    6. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan; 16(1):35-38. Martin MM, Lockspieler T, Slavotinek AM. PMID: 17159512.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    7. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15; 140(24):2730-41. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. PMID: 17103451.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    8. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov; 126(11):2408-13. Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. PMID: 16902423.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
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