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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.
Beygo, Jasmin; Joksic, Ivana; Strom, Tim M; Lüdecke, Hermann-Josef; Kolarova, Julia; Siebert, Reiner; Mikovic, Zeljko; Horsthemke, Bernhard; Buiting, Karin.
Affiliation
  • Beygo J; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Joksic I; Clinic of Gynecology and Obstetrics Narodni front, Belgrade, Serbia.
  • Strom TM; Institut für Humangenetik, Technische Universität München, München, Germany.
  • Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Kolarova J; Institut für Humangenetik, Christian-Albrechts-Universität Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany.
  • Siebert R; Institut für Humangenetik, Christian-Albrechts-Universität Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany.
  • Mikovic Z; Clinic of Gynecology and Obstetrics Narodni front, Belgrade, Serbia.
  • Horsthemke B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Buiting K; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Eur J Hum Genet ; 24(9): 1280-6, 2016 08.
Article in En | MEDLINE | ID: mdl-26839037
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Chromosomes, Human, Pair 11 / Chromosome Deletion / Genomic Imprinting / DNA Methylation / Paternal Inheritance / Chromosome Inversion Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Chromosomes, Human, Pair 11 / Chromosome Deletion / Genomic Imprinting / DNA Methylation / Paternal Inheritance / Chromosome Inversion Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido