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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan, Bo; Harel, Tamar; Gu, Shen; Liu, Pengfei; Burglen, Lydie; Chantot-Bastaraud, Sandra; Gelowani, Violet; Beck, Christine R; Carvalho, Claudia M B; Cheung, Sau Wai; Coe, Andrew; Malan, Valérie; Munnich, Arnold; Magoulas, Pilar L; Potocki, Lorraine; Lupski, James R.
Afiliação
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Burglen L; APHP, Service de génétique et embryologie médicales, CHU Paris Est - Hôpital d'Enfants Armand-Trousseau, Paris, 75571, France.
  • Chantot-Bastaraud S; APHP, Service de génétique et embryologie médicales, CHU Paris Est - Hôpital d'Enfants Armand-Trousseau, Paris, 75571, France.
  • Gelowani V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Carvalho CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coe A; University Hospitals, Coventry and Warwickshire NHS Trust, University Hospital, Coventry, West Midlands CV2 2DX, UK.
  • Malan V; Département de Génétique, Hôpital Necker-Enfants Malades and Université Paris Descartes, Institute Imagine, Paris, 75015, France.
  • Munnich A; Département de Génétique, Hôpital Necker-Enfants Malades and Université Paris Descartes, Institute Imagine, Paris, 75015, France.
  • Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
Am J Hum Genet ; 97(5): 691-707, 2015 Nov 05.
Article em En | MEDLINE | ID: mdl-26544804
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cromossomos Humanos Par 17 / Rearranjo Gênico / Doença de Charcot-Marie-Tooth / Duplicação Gênica / Transtornos Cromossômicos / Duplicação Cromossômica / Proteínas da Mielina Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cromossomos Humanos Par 17 / Rearranjo Gênico / Doença de Charcot-Marie-Tooth / Duplicação Gênica / Transtornos Cromossômicos / Duplicação Cromossômica / Proteínas da Mielina Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article