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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A; Magner, Daniel B; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christian P; Del Gaudio, Daniela.
Afiliación
  • Helgeson M; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Keller-Ramey J; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Knight Johnson A; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Lee JA; Greenwood Genetic Center, Greenwood, SC, USA.
  • Magner DB; IAM Scientific, Inc, Greenville, SC, USA.
  • Deml B; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Deml J; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Hu YY; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Li Z; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Donato K; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Das S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Laframboise R; CHU de Quebec, CHUL, Quebec, QC, Canada.
  • Tremblay S; CHU de Quebec, CHUL, Quebec, QC, Canada.
  • Krantz I; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Noon S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hoganson G; University of Illinois College of Medicine, Peoria, IL, USA.
  • Burton J; University of Illinois College of Medicine, Peoria, IL, USA.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Del Gaudio D; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital,, Houston, TX, USA.
J Hum Genet ; 63(3): 349-356, 2018 Mar.
Article en En | MEDLINE | ID: mdl-29279609
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Represoras / Eliminación de Secuencia / Síndrome de Cornelia de Lange / Estudios de Asociación Genética / Histona Desacetilasas Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Represoras / Eliminación de Secuencia / Síndrome de Cornelia de Lange / Estudios de Asociación Genética / Histona Desacetilasas Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos