Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Display Documents


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-10  
 Basket 
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
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Authors: Motazacker, Mohammad Mahdi; Rost, Benjamin Rainer; Hucho, Tim; Garshasb, Masoud; Kahriz, Kimia; Ullmann, Reinhard; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Amini, Saeid Hosseini; Goswami, Chandan; Tzschach, Andreas; Jensen, Lars Riff; Schmitz, Dietmar; Ropers, Hans-Hilger; Najmabadi, Hossein; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2007-10-01
Title of Journal: The American Journal of Human Genetics : AJHG
Volume: 81
Issue / Number: 4
Start Page: 792
End Page: 798
Document Type: Article
ID: 334559.0
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
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
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: 305410.0
 
Full text / Content available
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Authors: Jensen, Lars Riff; Amende, Marion; Gurok, Ulf; Moser, Bettina; Gimme, Verena; Tzschach, Andreas; Janecke, Andreas R.; Tariverdian, Gholamali; Chelly, Jamel; Fryns, Jean-Pierre; Van Esch, Hilde; Kleefstra, Tjitske; Hame, Ben; Moraine, Claude; Gécz, Jozef; Turner, Gillian; Reinhardt, Richard; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Lenzner, Steffen
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Human Genetics
Volume: 76
Issue / Number: 2
Start Page: 227
End Page: 236
Document Type: Article
ID: 271219.0
 
Full text / Content available
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Authors: Jensen, Lars Riff; Amende, Marion; Gurok, Ulf; Moser, Bettina; Gimme, Verena; Tzschach, Andreas; Janecke, Andreas R.; Tariverdian, Gholamali; Chelly, Jamel; Fryns, Jean-Pierre; Van Esch, Hilde; Kleefstra, Tjitske; Hame, Ben; Moraine, Claude; Gécz, Jozef; Turner, Gillian; Reinhardt, Richard; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Lenzner, Steffen
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Human Genetics
Volume: 76
Issue / Number: 2
Start Page: 227
End Page: 236
Document Type: Article
ID: 273074.0
 
Full text / Content available
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)
Authors: Tümer, Zeynep; Croucher, Peter J. P.; Jensen, Lars Riff; Hampe, Jochen; Hansen, Claus; Kalscheuer, Vera; Ropers, Hans Hilger; Tommerup, Niels; Schreiber, Stefan
Date of Publication (YYYY-MM-DD): 2002-03-12
Title of Journal: Gene
Volume: 288
Issue / Number: 1-2
Start Page: 179
End Page: 185
Document Type: Article
ID: 24266.0
Entries: 1-10  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.