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Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Aristidou, Constantia; Theodosiou, Athina; Bak, Mads; Mehrjouy, Mana M; Constantinou, Efthymia; Alexandrou, Angelos; Papaevripidou, Ioannis; Christophidou-Anastasiadou, Violetta; Skordis, Nicos; Kitsiou-Tzeli, Sophia; Tommerup, Niels; Sismani, Carolina.
Afiliação
  • Aristidou C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Theodosiou A; The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Bak M; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark.
  • Constantinou E; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark.
  • Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Papaevripidou I; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Christophidou-Anastasiadou V; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Skordis N; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia, Cyprus.
  • Kitsiou-Tzeli S; Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus.
  • Tommerup N; St George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus.
  • Sismani C; Department of Medical Genetics, Medical School, University of Athens, Athens, Greece.
PLoS One ; 13(10): e0205298, 2018.
Article em En | MEDLINE | ID: mdl-30289920
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Translocação Genética / Fácies / Perda Auditiva / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Chipre
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Translocação Genética / Fácies / Perda Auditiva / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Chipre