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The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel, Wolfram; Mostovoy, Yulia; Yilmaz, Feyza; Vervoort, Lisanne; Pastor, Steven; Hestand, Matthew S; Swillen, Ann; Vergaelen, Elfi; Geiger, Elizabeth A; Coughlin, Curtis R; Chow, Stephen K; McDonald-McGinn, Donna; Morrow, Bernice; Kwok, Pui-Yan; Xiao, Ming; Emanuel, Beverly S; Shaikh, Tamim H; Vermeesch, Joris R.
Afiliação
  • Demaerel W; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.
  • Mostovoy Y; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA.
  • Yilmaz F; Department of Integrative Biology, University of Colorado Denver, Denver, Colorado 80204, USA.
  • Vervoort L; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA.
  • Pastor S; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.
  • Hestand MS; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Swillen A; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.
  • Vergaelen E; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
  • Geiger EA; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45221, USA.
  • Coughlin CR; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.
  • Chow SK; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.
  • McDonald-McGinn D; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA.
  • Morrow B; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA.
  • Kwok PY; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA.
  • Xiao M; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Emanuel BS; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
  • Shaikh TH; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA.
  • Vermeesch JR; School of Biomedical Engineering, Drexel University, Philadelphia, Pennsylvania 19104, USA.
Genome Res ; 29(9): 1389-1401, 2019 09.
Article em En | MEDLINE | ID: mdl-31481461
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 22 / Sequências Repetitivas de Ácido Nucleico / Mapeamento Cromossômico / Síndrome da Deleção 22q11 Limite: Animals / Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 22 / Sequências Repetitivas de Ácido Nucleico / Mapeamento Cromossômico / Síndrome da Deleção 22q11 Limite: Animals / Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos