Your browser doesn't support javascript.
loading
Implication of non-coding PAX6 mutations in aniridia.
Plaisancié, Julie; Tarilonte, M; Ramos, P; Jeanton-Scaramouche, C; Gaston, V; Dollfus, H; Aguilera, D; Kaplan, J; Fares-Taie, L; Blanco-Kelly, F; Villaverde, C; Francannet, C; Goldenberg, A; Arroyo, I; Rozet, J M; Ayuso, C; Chassaing, N; Calvas, P; Corton, M.
Afiliação
  • Plaisancié J; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France. plaisancie.j@chu-toulouse.fr.
  • Tarilonte M; INSERM U1056, Université Toulouse III, Toulouse, France. plaisancie.j@chu-toulouse.fr.
  • Ramos P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Jeanton-Scaramouche C; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Gaston V; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Dollfus H; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Aguilera D; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.
  • Kaplan J; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.
  • Fares-Taie L; Centre de Référence pour les affections rares en génétique ophtalmologique, CARGO, Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Blanco-Kelly F; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Villaverde C; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Francannet C; Laboratoire de Génétique Ophtalmologique INSERM U1163, Institut Imagine, Paris, France.
  • Goldenberg A; Laboratoire de Génétique Ophtalmologique INSERM U1163, Institut Imagine, Paris, France.
  • Arroyo I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Rozet JM; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
  • Chassaing N; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Calvas P; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.
  • Corton M; Service de Génétique, CHU de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
Hum Genet ; 137(10): 831-846, 2018 Oct.
Article em En | MEDLINE | ID: mdl-30291432
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Elementos Facilitadores Genéticos / Regiões 3' não Traduzidas / Loci Gênicos / Fator de Transcrição PAX6 / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Elementos Facilitadores Genéticos / Regiões 3' não Traduzidas / Loci Gênicos / Fator de Transcrição PAX6 / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França