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Entries: 1-8  
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Authors: Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R.; Nillesen, Willy M.; Yntema, Helger G.; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D.; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben C. J.; van Bokhoven, Hans; de Brouwer, Arjan P. M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 444
End Page: 453
Document Type: Article
ID: 473314.0
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
Authors: de Brouwer, Arjan P.M.; Yntema, Helger G.; Kleefstra, Tjitske; Lugtenberg, Dorien; Oudakker, Astrid R.; de Vries, Bert B. A.; van Bokhoven, Hans; van Esch, Hilde; Frints, Suzanne G. M.; Froyen, Guy; Fryns, Jean-Pierre; Raynaud, Martine; Moizard, Marie-Pierre; Ronce, Nathalie; Bensalem, Anissa; Moraine, Claude; Poirier, Karine; Castelnau, Laetitia; Saillour, Yoann; Bienvenu, Thierry; Beldjord, Chérif; des Portes, Vincent; Chelly, Jamel; Turner, Gillian; Fullston, Tod; Gecz, Jozef; Kuss, Andreas W.; Tzschach, Andreas; Jensen, Lars Riff; Lenzner, Steffen; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Hamel, Ben C.J.
Date of Publication (YYYY-MM-DD): 2007-01-12
Title of Journal: Human Mutation
Volume: 28
Issue / Number: 2
Start Page: 207
End Page: 208
Document Type: Article
ID: 333783.0
 
Full text / Content available
ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic 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
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: American Journal of Human Genetics : : AJHG / American Society of Human Genetics
Volume: 78
Issue / Number: 2
Start Page: 265
End Page: 278
Document Type: Article
ID: 307723.0
 
Full text / Content available
High prevalence of SLC6A8 deficiency in X-linked mental retardation
Authors: Rosenberg, Efraim H.; Almeida, Ligia S.; Kleefstra, Tjitske; deGrauw, Rose S.; Yntema, Helger G.; Bahi, Nadia; Moraine, Claude; Ropers, Hans-Hilger; Fryns, Jean-Pierre; deGrauw, Ton J.; Jakobs, Cornelis; Salomons, Gajja S.
Date of Publication (YYYY-MM-DD): 2004-05-20
Title of Journal: American Journal of Human Genetics
Volume: 75
Start Page: 97
End Page: 105
Document Type: Article
ID: 225160.0
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
Authors: Gomot, Marie; Gendrot, Chantal; Verloes, Alain; Raynaud, Martine; David, Albert; Yntema, Helger G.; Dessay, Sabine; Kalscheuer, Vera; Frints, Suzanne; Convert, Philippe; Briault, Sylvain; Blesson, Sophie; Toutain, Annick; Chelly, Jamel; Desportes, Vincent; Moraine, Claude
Date of Publication (YYYY-MM-DD): 2003-12-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 123A
Issue / Number: 2
Start Page: 129
End Page: 139
Document Type: Article
ID: 127597.0
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors: Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2003-12
Title of Journal: Nature Genetics
Volume: 35
Issue / Number: 4
Start Page: 313
End Page: 315
Document Type: Article
ID: 127750.0
 
Full text / Content available
FACL4, encoding fatty acid-CoA ligase 4, is mutated in
nonspecific X-linked mental retardation
Authors: Meloni, Ilaria; Muscettola, Maddalena; Raynaud, Martine; Longo, Ilaria; Bruttini, Mirella; Moizard, Marie-Pierre; Gomot, Marie; Chelly, Jamel; des Portes, Vincent; Fryns, Jean-Pierre; Ropers, Hans Hilger; Magi, Barbara; Bellan, Cristina; Volpi, Nila; Yntema, Helger G.; Lewis, Sarah E.; Schaffer, Jean E.; Renieri, Alessandra
Date of Publication (YYYY-MM-DD): 2002-03
Title of Journal: Nature Genetics
Volume: 30
Issue / Number: 4
Start Page: 436
End Page: 440
Document Type: Article
ID: 24181.0
In-frame deletion in MECP2 causes mild nonspecific mental retardation
Authors: Yntema, Helger G.; Oudakker, Astrid R.; Kleefstra, Tjitske; Hamel, Ben C. J.; van Bokhoven, Hans; Chelly, Jamel; Kalscheuer, Vera M.; Fryns, Jean-Pierre; Raynaud, Martine; Moizard, Marie-Pierre; Moraine, Claude
Date of Publication (YYYY-MM-DD): 2002-01
Title of Journal: American Journal of Medical Genetics
Volume: 107
Issue / Number: 1
Start Page: 81
End Page: 83
Document Type: Article
ID: 24374.0
Entries: 1-8  
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