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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Authors: Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hame, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-04-09
Title of Journal: European Journal of Human Genetics
Volume: 16
Issue / Number: 9
Start Page: 1029
End Page: 1037
Document Type: Article
ID: 407419.0
 
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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
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Authors: Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff; Delatycki, Martin B.; des Portes, Vincent; Moser, Bettina; Hamel, Ben; van Bokhoven, Hans; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; Gécz, Jozef; Lenzner, Steffen; Kalscheuer, Vera M.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2004-05-25
Title of Journal: American Journal of Human Genetics
Volume: 75
Issue / Number: 2
Start Page: 305
End Page: 309
Document Type: Article
ID: 224389.0
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene
Authors: Frints, Suzanna G. M.; Jun, Lin; Fryns, Jean-Pierre; Devriendt, Koen; Teulingkx, Rudi; Van den Berghe, Lut; De Vos, Bernice; Borghgraef, Martine; Chelly, Jamel; Des Portes, Vincent; Van Bokhoven, Hans; Hamel, Ben; Ropers, Hans-Hilger; Kalscheuer, Vera; Raynaud, Martine; Moraine, Claude; Marynen, Peter; Froyen, Guy
Date of Publication (YYYY-MM-DD): 2003-06-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 119A
Issue / Number: 3
Start Page: 367
End Page: 374
Document Type: Article
ID: 126783.0
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
Entries: 1-5  
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