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Search for genes involved in human cognition : molecular characterisation of two novel genes, FBXO25 and KIAA1202, disrupted by a translocation in a mentally retarded patient |
Authors: Hagens, Olivier | Name of University: Freie Universität | Place of University: Berlin | Date of Approval (YYYY-MM-DD): 2006-12-19 | Document Type: PhD-Thesis | ID: 562761.0 |
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect |
Authors: Cossée, Mireille; Demeer, Bénédicte; Blanchet, Patricia; Echenne, Bernard; Singh, Deepika; Hagens, Olivier; Antin, Manuela; Finck, Sonja; Vallee, Louis; Dollfus, Hélène; Hegde, Sridevi; Springell, Kelly; Thelma, B. K .; Woods, Geoffrey; Kalscheuer, Vera M.; Mandel, Jean-Louis | Date of Publication (YYYY-MM-DD): 2006-02-22 | Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics | Volume: 14 | Issue / Number: 4 | Start Page: 418 | End Page: 425 | Document Type: Article | ID: 307435.0 |
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation |
Authors: Hagens, Olivier; Dubos, Aline; Abidi, Fatima; Barbi, Gotthold; Van Zutven, Laura; Hoeltzenbein, Maria; Tommerup, Niels; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; van Bokhoven, Hans; Gécz, Jozef; Dollfus, Hélène; Ropers, Hans-Hilger; Schwartz, Charles E.; de Cassia Stocco dos Santos, Rita; Kalscheuer, Vera M.; Hanauer, André | Date of Publication (YYYY-MM-DD): 2006-01-01 | Title of Journal: Human Genetics | Volume: 118 | Issue / Number: 5 | Start Page: 578 | End Page: 590 | Document Type: Article | ID: 307641.0 |
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Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy |
Authors: Shoichet, Sarah A.; Duprez, Laurence; Hagens, Olivier; Waetzig, Vicki; Menzel, Corinna; Herdegen, Thomas; Schweiger, Susann; Dan, Bernard; Vamos, Esther; Ropers, Hans-Hilger; Kalscheuer, Vera M. | Date of Publication (YYYY-MM-DD): 2006-01-01 | Title of Journal: Human Genetics | Volume: 118 | Issue / Number: 5 | Start Page: 559 | End Page: 567 | Document Type: Article | ID: 308502.0 |
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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 |
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