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A germline chromothripsis event stably segregating in 11 individuals through three generations.
Bertelsen, Birgitte; Nazaryan-Petersen, Lusine; Sun, Wei; Mehrjouy, Mana M; Xie, Gangcai; Chen, Wei; Hjermind, Lena E; Taschner, Peter E M; Tümer, Zeynep.
Afiliação
  • Bertelsen B; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.
  • Nazaryan-Petersen L; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.
  • Sun W; Max Delbrück Center for Molecular Medicine, Berlin Institute for Medical Systems Biology, Berlin, Germany.
  • Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.
  • Xie G; Max Delbrück Center for Molecular Medicine, Berlin Institute for Medical Systems Biology, Berlin, Germany.
  • Chen W; Max Delbrück Center for Molecular Medicine, Berlin Institute for Medical Systems Biology, Berlin, Germany.
  • Hjermind LE; Neurogenetics Clinic, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, and Department of Cellular and Molecular Medicine, Section of Neurogenetics, University of Copenhagen, Copenhagen, Denmark.
  • Taschner PE; Generade Center of Expertise Genomics; University of Applied Sciences Leiden, Leiden, The Netherlands.
  • Tümer Z; Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.
Genet Med ; 18(5): 494-500, 2016 05.
Article em En | MEDLINE | ID: mdl-26312826
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Translocação Genética / Cromotripsia / Células Germinativas Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Translocação Genética / Cromotripsia / Células Germinativas Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article