|
|
|
|
| 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 |
|
|
|
|
|
|
|
| A new chromosome X Exon-specific microarray platform for screening of patients with X-linked disorders |
| Authors: Bashiardes, Stavros; Kousoulidou, Ludmila; van Bokhoven, Hans; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; de Brouwer, Arjan P. M.; van Esch, Hilde; Froyen, Guy; Patsalis, Philippos C. | | Date of Publication (YYYY-MM-DD): 2009-11 | | Title of Journal: Journal of Molecular Diagnostics | | Volume: 11 | | Issue / Number: 6 | | Start Page: 562 | | End Page: 568 | | Document Type: Article | | ID: 468992.0 |
|
|
|
|
|
|
|
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation |
| Authors: Tarpey, Patrick S.; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M. Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E.; Srivastava, Anand K.; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L.; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F.; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E.; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E.; Gecz, Jozef; Raymond, F. Lucy; Futreal, P. Andrew; Stratton, Michael R. | | Date of Publication (YYYY-MM-DD): 2009-05 | | Title of Journal: Narure Genetics | | Volume: 41 | | Issue / Number: 5 | | Start Page: 535 | | End Page: 543 | | Document Type: Article | | ID: 473606.0 |
|
|
|
|
|
|
|
| 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 |
|
|
|
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.
|
|
Advanced
