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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 in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation
Authors: Shoichet, Sarah A. Hoffmann, Kristen Menzel, Corinna Trautmann, Udo Moser, Bettina Hoeltzeinbein, Maria Echenne, Bernard Partington, Michael Bokhoven, Hans, Van Moraine, Claude Fryns, Jean-Pierre Chelly, Jamel Rott, Hans-Dieter Ropers, Hans-Hilger Kalscheuer, Vera M.
Citation: A. Shoichet, Sarah et al., Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation, American journal of human genetics , 73(6), 2003, pp. 1341-1354
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
Authors: Kolehmainen, Juha Black, Graeme C.M. Saarinen, Anne Chandler, Kate Clayton-Smith, Jill Träskelin, Ann-Liz Perveen, Rahat Kivitie-Kallio, Satu Norio, Reijo Warburg, Mette Fryns, Jean-Pierre de la Chapelle, Albert Lehesjoki, Anna-Elina
Citation: Kolehmainen, Juha et al., Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport, American journal of human genetics , 72(6), 2003, pp. 1359-1369
Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia
Authors: Irrthum, Alexandre Devriendt, Koenraad Chitayart, David Matthijis, Gert Glade, Conrad Steijlen, Peter M. Fryns, Jean-Pierre Steensel, Maurice A., Van Vikkula, Miikka
Citation: Irrthum, Alexandre et al., Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia, American journal of human genetics , 72(6), 2003, pp. 1470-1478
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