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Results: 1-6 |
Results: 6
Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
Authors: Riff Jensen, Lars Amende, Marion Gurok, Ulf Moser, Betina Gimmel, Verena Tzschach, Andreas Janecke, Andreas R. Tariverdian, Gholamali Chelly, Verena Fryns, Jean-Pierre Van Esch, Hilde Kleefstra, Tjitske Hamel, Ben Moraine, Claude Gécz, Jozef Turner, Gillian Reinhardt, Richard Kalscheuer, Vera M. Ropers, Hans-Hilger Lenzner, Steffen
Citation: Riff Jensen, Lars et al., Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation, American journal of human genetics , 76(2), 2005, pp. 227-236
ZNF674: A New Krüppel-Associated Box.Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
Authors: Lugtenberg, Dorien Yntema, Helger G. Banning, Martijn J.G. Oudakker, Astrid R. Firth, Helen V. Willatt, Lionel Raynaud, Martine Kleefstra, Tjitske Fryns, Jean-Pierre Ropers, Hans-Hilger Chelly, Jamel Moraine, Claude Gécz, Jozef Van Reeuwijk, Jeroen Nabuurs, Sander B. De Vries, Bert B.A. Hamel,Ben C. J. De Brouwer, Arjan P.M. Van Bokhoven, Hans
Citation: Lugtenberg, Dorien et al., ZNF674: A New Krüppel-Associated Box.Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation, American journal of human genetics , 78(2), 2006, pp. 265-278
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Authors: Van Esch, Hilde Bauters, Marijke Ignatius, Jaakko Jansen, Mieke Raynaud, Martine Hollanders, Karen Lugtenberg, Dorien Bienvenu, Thierry Riff Jensen, Lars Gécz, Jozef Moraine, Claude Marynen, Peter Fryns, Jean-Pierre Froyen, Guy
Citation: Van Esch, Hilde et al., Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males, American journal of human genetics , 77(3), 2005, pp. 442-453
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
Authors: Weaving, Linda S. Christodoulou, John Williamson, Sarah L. Friend, Kathie L. McKenzie, Olivia L.D. Archer, Hayley Evans, Julie Clarke, Angus Pelka, Greogry J. Tam, Patrick P.L. Watson, Catherine Lahooti, Hooshang llaway, Carolyn J. Bennetts, Bruce Leonard, Helen Gécz, Jozef
Citation: S. Weaving, Linda et al., Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation, American journal of human genetics , 75(6), 2004, pp. 1079-1093
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
Authors: Burdon, Kathryn P. McKay, James D. Sale, Michèle M. Russell-Eggitt, Isabelle M. Wirth, M. Gabriela Elder, James E. Nicoll, Alan Clarke, Michael P. FitzGerald, Liesel M. Stankovich, James M. Shaw, Marie A. Sharma, Shiwani Gajovic, Srecko Gruss, Peter Ross, Shelley Thomas, Paul Voss, Anne K. Thomas, Tim Gécz, Jozef Craig, Jamie E. Mackey, David A.
Citation: P. Burdon, Kathryn et al., Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation, American journal of human genetics , 73(5), 2003, pp. 1120-1130
Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Authors: Kalscheuer, Vera M. Tao, Jiong Donnelly, Andrew Hollway, Georgina Schwinger, Eberdhard Kübart, Sabine Menzel, Corinna Hoeltzenbein, Maria Tommerup, Niels Eyre, Helen Harbord, Michael Haan, Eric Sutherland, Grant R. Ropers, Hans-Hilger Gécz, Jozef
Citation: M. Kalscheuer, Vera et al., Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation, American journal of human genetics , 72(6), 2003, pp. 1401-1411
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