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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-02
Title of Journal: Pathogenetics
Volume: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 472557.0
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-01
Title of Journal: Pathogenetics
Volume: 2
Issue / Number: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 533094.0
 
Full text / Content available
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
 
Full text / Content available
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
 
Full text / Content available
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors: Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 3
Start Page: 375
End Page: 378
Document Type: Article
ID: 333773.0
 
Full text / Content available
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors: Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 3
Start Page: 375
End Page: 378
Document Type: Article
ID: 337307.0
 
Full text / Content available
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
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Authors: Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter
Date of Publication (YYYY-MM-DD): 2007-01-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 1
Start Page: 68
End Page: 75
Document Type: Article
ID: 334088.0
 
Full text / Content available
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Authors: Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter
Date of Publication (YYYY-MM-DD): 2007-01-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 1
Start Page: 68
End Page: 75
Document Type: Article
ID: 337308.0
 
Full text / Content available
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Date of Publication (YYYY-MM-DD): 2006-03-15
Title of Journal: Human Mutation
Volume: 27
Issue / Number: 4
Start Page: 389
End Page: 389
Document Type: Article
ID: 305408.0
 
Full text / Content available
Entries: 1-10  
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