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Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Dana, Jérémy; Dorval, Guillaume; Martin, Christine Saint; Belhous, Kahina; Levy, Raphael; Marlin, Sandrine; De Bie, Isabelle; Mautret-Godefroy, Manon; Rausell, Antonio; Rio, Marlène; Boucher-Brischoux, Elise; Attié-Bitach, Tania; Boddaert, Nathalie; Pingault, Véronique.
Afiliação
  • Dana J; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Dorval G; Service de Radiologie Pédiatrique, AP-HP, Hôpital Necker Enfants Malades, Université Paris cite, Paris, France.
  • Martin CS; Department of Diagnostic Radiology, McGill University Health Centre, Montreal, Quebec, Canada.
  • Belhous K; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Levy R; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, Paris, France.
  • Marlin S; Department of Diagnostic Radiology, McGill University Health Centre, Montreal, Quebec, Canada.
  • De Bie I; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Mautret-Godefroy M; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Rausell A; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Rio M; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, Paris, France.
  • Boucher-Brischoux E; Division de génétique médicale, département de médecine spécialisée, centre universitaire de santé McGill, Montréal, Québec, Canada.
  • Attié-Bitach T; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, Paris, France.
  • Boddaert N; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.
  • Pingault V; Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, Paris, France.
Clin Genet ; 104(4): 466-471, 2023 10.
Article em En | MEDLINE | ID: mdl-37243350
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome CHARGE Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome CHARGE Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França