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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes
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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes

Shannon Marchegiani Taylor Davis; Federico Tessadori; Gijs van Haaften; Francesco Brancati; Alexander Hoischen; Haigen Huang; Elise Valkanas; Barbara Pusey; Denny Schanze; Hanka Venselaar; Anneke T Vulto-van Silfhout; Lynne A Wolfe; Cynthia J Tifft; Patricia M Zerfas; Giovanna Zambruno; Ariana Kariminejad; Farahnaz Sabbagh-Kermani; Janice Lee; Maria G Tsokos; Chyi-Chia R Lee; Victor Evangelista de Faria Ferraz; Eduarda Morgana da Silva; Cathy A Stevens; Nathalie Roche; Oliver Bartsch; Peter Farndon; Eva Bermejo-Sanchez; Brian P Brooks; Valerie Maduro; Bruno Dallapiccola; Feliciano J Ramos; Hon-Yin Brian Chung; Cédric Le Caignec; Fabiana Martins; Witold K Jacyk; Laura Mazzanti; Han G Brunner; Jeroen Bakkers; Shuo Lin; May Christine V Malicdan; Cornelius F Boerkoel; William A Gahl; Bert B. A. de Vries Mieke M. van Haelst; Martin Zenker; Thomas C Markello

American Journal of Human Genetics Cambridge v. 97, n. 1, p. 99-110, 2015

Cambridge 2015

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2718771 Estantes Deslizantes )(Acessar)

2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Myers, Candace T. ; Cossette, Patrick ; Lemay, Philippe ; Spiegelman, Dan ; Laporte, Alexandre Dionne ; Nassif, Christina ; Diallo, Ousmane ; Monlong, Jean ; Cadieux-Dion, Maxime ; Dobrzeniecka, Sylvia ; Meloche, Caroline ; Retterer, Kyle ; Cho, Megan T. ; Rosenfeld, Jill A. ; Bi, Weimin ; Massicotte, Christine ; Miguet, Marguerite ; Brunga, Ledia ; Regan, Brigid M. ; Mo, Kelly ; Tam, Cory ; Hollingsworth, Georgie ; FitzPatrick, David R. ; Canham, Natalie ; Blair, Edward ; Kerr, Bronwyn ; Fry, Andrew E. ; Thomas, Rhys H. ; Shelagh, Joss ; Hurst, Jane A. ; Brittain, Helen ; Blyth, Moira ; Lebel, Robert Roger ; Gerkes, Erica H. ; Davis-Keppen, Laura ; Stein, Quinn ; Dorison, Sara J. ; Benke, Paul J. ; Fassi, Emily ; Corsten-Janssen, Nicole ; Kamsteeg, Erik-Jan ; Mau-Them, Frederic T. ; Bruel, Ange-Line ; Verloes, Alain ; Õunap, Katrin ; Wojcik, Monica H. ; Albert, Dara V.F. ; Venkateswaran, Sunita ; Ware, Tyson ; Liu, Yu-Chi ; Mohammad, Shekeeb S. ; Bizargity, Peyman ; Bacino, Carlos A. ; Leuzzi, Vincenzo ; Martinelli, Simone ; Dallapiccola, Bruno ; Tartaglia, Marco ; Blumkin, Lubov ; Wierenga, Klaas J. ; Purcarin, Gabriela ; O’Byrne, James J. ; Stockler, Sylvia ; Lehman, Anna ; Keren, Boris ; Nougues, Marie-Christine ; Mignot, Cyril ; Auvin, Stéphane ; Nava, Caroline ; Hiatt, Susan M. ; Bebin, Martina ; Shao, Yunru ; Scaglia, Fernando ; Frye, Richard E. ; Jarjour, Imad T. ; Jacques, Stéphanie ; Boucher, Renee-Myriam ; Riou, Emilie ; Srour, Myriam ; Carmant, Lionel ; Lortie, Anne ; Major, Philippe ; Diadori, Paola ; Dubeau, François ; D’Anjou, Guy ; Bourque, Guillaume ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Campeau, Philippe M. ; Kibar, Zoha ; Lafrenière, Ronald G. ; Girard, Simon L. ; Mercimek-Mahmutoglu, Saadet ; Boelman, Cyrus ; Rouleau, Guy A. ; Scheffer, Ingrid E. ; Mefford, Heather C. ; Andrade, Danielle M. ; Rossignol, Elsa ; Minassian, Berge A. ; Michaud, Jacques L.

American journal of human genetics, 2017-11, Vol.101 (5), p.664-685 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Haaften, G
  2. Kariminejad, A
  3. Bakkers, J
  4. Venselaar, H
  5. Ramos, F

Neste Assunto:

  1. Brain Diseases - Genetics
  2. Epilepsy - Genetics
  3. Dhdds
  4. Genetics & Heredity
  5. Genética

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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