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: 1-7  
 Basket 
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
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
X-linked mental retardation
Authors: Ropers, Hans-Hilger; Hamel, Ben C. J.
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: Nature Reviews Genetics
Volume: 6
Issue / Number: 1
Start Page: 46
End Page: 57
Document Type: Article
ID: 271587.0
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
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
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
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: 1-7  
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.