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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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.
Affiliation
  • Lugtenberg D; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Eur J Hum Genet ; 17(4): 444-53, 2009 Apr.
Article in En | MEDLINE | ID: mdl-18985075
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Gene Duplication / Chromosomes, Human, X / Mental Retardation, X-Linked / Methyl-CpG-Binding Protein 2 Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Gene Duplication / Chromosomes, Human, X / Mental Retardation, X-Linked / Methyl-CpG-Binding Protein 2 Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom