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The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Nazaryan, Lusine; Stefanou, Eunice G; Hansen, Claus; Kosyakova, Nadezda; Bak, Mads; Sharkey, Freddie H; Mantziou, Theodora; Papanastasiou, Anastasios D; Velissariou, Voula; Liehr, Thomas; Syrrou, Maria; Tommerup, Niels.
Afiliação
  • Nazaryan L; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.
  • Stefanou EG; Laboratory of Medical Genetics, Cytogenetics Unit, Department of Pediatrics, University General Hospital of Patras, Patras, Greece.
  • Hansen C; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.
  • Kosyakova N; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
  • Bak M; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.
  • Sharkey FH; Department of Molecular Genetics, Western General Hospital, Edinburgh, UK.
  • Mantziou T; Laboratory of General Biology, University of Ioannina, Ioannina, Greece.
  • Papanastasiou AD; Laboratory of General Biology, School of Medicine, University of Patras, Rio, Greece.
  • Velissariou V; Department of Genetics and Molecular Biology, 'Mitera' General Maternity/Gynecology and Children's Hospital, Hygeia Group, Athens, Greece.
  • Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
  • Syrrou M; Laboratory of General Biology, University of Ioannina, Ioannina, Greece.
  • Tommerup N; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.
Eur J Hum Genet ; 22(3): 338-43, 2014 Mar.
Article em En | MEDLINE | ID: mdl-23860044
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios da Fala / Deficiências do Desenvolvimento / Mutação em Linhagem Germinativa / Instabilidade Cromossômica / Fatores de Transcrição Forkhead Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios da Fala / Deficiências do Desenvolvimento / Mutação em Linhagem Germinativa / Instabilidade Cromossômica / Fatores de Transcrição Forkhead Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article