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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric Le; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemma; Robertshaw, Kate; Fifield, Eve; Fabretto, Antonella; Pecile, Vanna; Gasparini, Paolo; Carrozzi, Marco; Lacombe, Didier; Arveiler, Benoît; Rooryck, Caroline; Moutton, Sébastien.
Afiliação
  • Trimouille A; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France. aurelien.trimouille@chu-bordeaux.fr.
  • Houcinat N; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Vuillaume ML; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Fergelot P; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Boucher C; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), INSERM U1211, F-33000, Bordeaux, France.
  • Toutain J; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Caignec CL; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Vincent M; Department of Medical Genetics, CHU Nantes, Nantes, France.
  • Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France.
  • Andrieux J; Department of Medical Genetics, CHU Nantes, Nantes, France.
  • Vanlerberghe C; Department of Medical Genetics, Jeanne de Flandre Hospital CHU, F-59000, Lille, France.
  • Delobel B; Department of Medical Genetics, GHICL, Hôpital Saint Vincent de Paul, Lille, France.
  • Duban B; Department of Medical Genetics, GHICL, Hôpital Saint Vincent de Paul, Lille, France.
  • Mansour S; Department of Medical Genetics, GHICL, Hôpital Saint Vincent de Paul, Lille, France.
  • Baple E; SW Thames Regional Genetics Service, St George's, University of London, Tooting, London, UK.
  • McKeown C; SW Thames Regional Genetics Service, St George's, University of London, Tooting, London, UK.
  • Poke G; Genetic Health Service NZ, Wellington Hospital, Wellington, New Zealand.
  • Robertshaw K; Genetic Health Service NZ, Wellington Hospital, Wellington, New Zealand.
  • Fifield E; Child Development Service, Hawke's Bay District Health Board, Hastings, New Zealand.
  • Fabretto A; Child Development Service, Hawke's Bay District Health Board, Hastings, New Zealand.
  • Pecile V; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
  • Gasparini P; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
  • Carrozzi M; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
  • Lacombe D; University of Trieste, Trieste, Italy.
  • Arveiler B; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
  • Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Moutton S; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), INSERM U1211, F-33000, Bordeaux, France.
Eur J Hum Genet ; 26(1): 85-93, 2018 01.
Article em En | MEDLINE | ID: mdl-29184170
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cromossomos Humanos Par 19 / Fatores de Transcrição NFI / Duplicação Cromossômica / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cromossomos Humanos Par 19 / Fatores de Transcrição NFI / Duplicação Cromossômica / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido