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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


Mutations in GDF5 reveal a key residue mediating BMP
inhibition by NOGGIN
Authors: Seemann, Petra; Brehm, Anja; König, Jana; Reissner, Carsten; Stricker, Sigmar; Kuss, Pia; Haupt, Julia; Renninger, Stephanie; Nickel, Joachim; Sebald, Walter; Groppe, Jay C.; Plöger, Frank; Schmidt-von Kegler, Mareen; Walther, Maria; Gassner, Ingmar; Rusu, Cristina; Janecke, Andreas R.; Dathe, Katarina; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-11-26
Title of Journal: PLoS Genetics
Volume: 5
Issue / Number: 11
Start Page: e1000747
End Page: e1000747
Document Type: Article
ID: 456439.0


Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0


: 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


: 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