KamerTezcanMD

PubMed

• 6 citations
  Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.
  Ferenc Török, Kamer Tezcan, Ludovica Filippini, Monica L Fernández-Quintero, Lucia Zanetti, Klaus R Liedl, Raphaela S Drexel, Jörg Striessnig, Nadine J Ortner> ;Human Molecular Genetics. 2023 Feb 19
• 35 citations
  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Biological Psychiatry. 2020 Jan 15
• 64 citations
  Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency
  Chloé Saunier, Svein Isungset Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Br...> ;Human Mutation. 2016 Aug 1
• 8 citations
  Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
  Sarah E. Grams, Bob Argiropoulos, Matthew A. Lines, Pranesh Chakraborty, Jean McGowan-Jordan, Michael T. Geraghty, Marilyn Tsang, Marthand Eswara, Kamer Tezcan, Kelly ...> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 7 citations
  Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
  Kamer Tezcan, Kristal T. Louie, Yong Qu, Jorge Velasquez, Frank Zaldivar, Jose Camacho> ;JIMD Reports. 2011 Sep 22
• 51 citations
  Genotype-Phenotype Analysis of the Branchio-Oculo-Facial Syndrome
  Jeff M. Milunsky, Tom M. Maher, Geping Zhao, Zhenyuan Wang, John B. Mulliken, David Chitayat, Michele Clemens, Heather J. Stalker, Mislen Bauer, Michele Burch, Sébasti...> ;American Journal of Medical Genetics. Part A. 2011 Jan 1
• 44 citations
  Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
  Bernard S. Chang, Xianhua Piao, Caterina Giannini, Gregory D. Cascino, Ingrid E. Scheffer, C G Woods, Meral Topçu, K. Tezcan, Adria Bodell, Richard J. Leventer, A. J. ...> ;Neurology. 2004 May 25
• 41 citations
  Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap
  S. Harvey Mudd, Nancy Braverman, Martin G. Pomper, Kamer Tezcan, Jonathan B. Kronick, Parul Jayakar, Cheryl Garganta, Mary G. Ampola, Harvey L. Levy, Shawn E. McCandle...> ;Molecular Genetics and Metabolism. 2003 May 1
• 53 citations
  OA1 Mutations and Deletions in X-Linked Ocular Albinism
  Rhonda E. Schnur, Mei Gao, Penelope A. Wick, Margaret Keller, Paul J. Benke, Matthew S. Edwards, Arthur W. Grix, Athel Hockey, Jack H. Jung, Kenneth K. Kidd, Mildred L...> ;American Journal of Human Genetics. 1998 Apr 1
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