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Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Beleza-Meireles, Ana; Hart, Rachel; Clayton-Smith, Jill; Oliveira, Renata; Reis, Cláudia Falcão; Venâncio, Margarida; Ramos, Fabiana; Sá, Joaquim; Ramos, Lina; Cunha, Elizabete; Pires, Luís Miguel; Carreira, Isabel Marques; Scholey, Rachel; Wright, Ronnie; Urquhart, Jill E; Briggs, Tracy A; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Donnai, Dian; Newman, William G; Saraiva, Jorge Manuel; Tassabehji, May.
Afiliación
  • Beleza-Meireles A; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK. Electronic address: ana.beleza@me.com.
  • Hart R; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Mersey Regional Genetic Service, Alder Hey Hospital, Liverpool, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Oliveira R; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Venâncio M; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Ramos F; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Sá J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Ramos L; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Cunha E; Unidade Hematologia Molecular, Serviço de Hematologia, CHUC, Portugal.
  • Pires LM; Faculdade de Medicina da Universidade de Coimbra, Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
  • Carreira IM; Faculdade de Medicina da Universidade de Coimbra, Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
  • Scholey R; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Wright R; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, USA.
  • Urquhart JE; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, USA.
  • Briggs TA; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Kerr B; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Kingston H; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Metcalfe K; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Donnai D; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Newman WG; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Saraiva JM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculdade de Medicina da Universidade de Coimbra, Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
  • Tassabehji M; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electron
Eur J Med Genet ; 58(9): 455-65, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26206081
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Texto completo: 1 Colección: 01-internacional Asunto principal: Discapacidades del Desarrollo / Síndrome de Goldenhar Tipo de estudio: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Asunto principal: Discapacidades del Desarrollo / Síndrome de Goldenhar Tipo de estudio: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article