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Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Authors: Froyen, Guy; Corbett, Mark; Vandewalle, Joke; Jarvela, Irma; Lawrence, Owen; Meldrum, Cliff; Bauters, Marijke; Govaerts, Karen; Vandeleur, Lucianne; Van Esch, Hilde; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans; Ropers, Hans-Hilger; Laumonnier, Frederic; Ranieri, Enzo; Schwartz, Charles E.; Abidi, Fatima; Tarpey, Patrick S.; Futreal, P. Andrew; Whibley, Annabel; Raymond, F. Lucy; Stratton, Michael R.; Fryns, Jean-Pierre; Scott, Rodney; Peippo, Maarit; Sipponen, Marjatta; Partington, Michael; Mowat, David; Field, Michael; Hackett, Anna; Marynen, Peter; Turner, Gillian; Gécz, Jozef
Date of Publication (YYYY-MM-DD): 2008-01-24
Title of Journal: The American Journal of Human Genetics,
Volume: 82
Issue / Number: 2
Start Page: 432
End Page: 443
Document Type: Article
ID: 408288.0


X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
Authors: Laumonnier, Frédéric; Bonnet-Brilhault, Frédérique; Gomot, Marie; Blanc, Romuald; David, Albert; Moizard, Marie-Pierre; Raynaud, Martine; Ronce, Nathalie; Lemonnier, Eric; Calvas, Patrick; Laudier, Béatrice; Chelly, Jamel; Fryns, Jean-Pierre; Ropers, Hans-Hilger; Hamel, Ben C. J.; Andres, Christian; Barthélémy, Catherine; Moraine, Claude; Briault, Sylvain
Date of Publication (YYYY-MM-DD): 2004-02-12
Title of Journal: American Journal of Human Genetics
Volume: 74
Issue / Number: 3
Start Page: 552
End Page: 557
Document Type: Article
ID: 224730.0


Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Authors: Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C. J.; Thomas, Paul; Jespinasse, James; Raynaud, Martine; Paringaux, Christine; Bokhoven, Hans van; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain
Date of Publication (YYYY-MM-DD): 2002-12
Title of Journal: American Journal of Human Genetics
Volume: 71
Issue / Number: 6
Start Page: 1450
End Page: 1455
Document Type: Article
ID: 24162.0


A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
Authors: Zanni, Ginevra; van Esch, Hilde; Bensalem, Anissa; Saillour, Yoann; Poirier, Karine; Castelnau, Laetitia; Ropers, Hans-Hilger; . de Brouwer, Arjan P. M.; Laumonnier, Fréderic; Fryns, Jean-Pierre; Chelly, Jamel
Title of Journal: Neurogenetics
Volume: 11
Issue / Number: 2
Start Page: 251
End Page: 255
Document Type: Article
ID: 536143.0