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Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Alessandri, Jean-Luc; Gordon, Christopher T; Jacquemont, Marie-Line; Gruchy, Nicolas; Ajeawung, Norbert F; Benoist, Guillaume; Oufadem, Myriam; Chebil, Asma; Duffourd, Yannis; Dumont, Coralie; Gérard, Marion; Kuentz, Paul; Jouan, Thibaud; Filippini, Francesca; Nguyen, Thi Tuyet Mai; Alibeu, Olivier; Bole-Feysot, Christine; Nitschké, Patrick; Omarjee, Asma; Ramful, Duksha; Randrianaivo, Hanitra; Doray, Bérénice; Faivre, Laurence; Amiel, Jeanne; Campeau, Philippe M; Thevenon, Julien.
Afiliação
  • Alessandri JL; Service de Réanimation Néonatale, Pole Femme-Mère-Enfant, CH Felix Guyon, CHU de La Réunion, Saint-Denis, La Réunion, France. jean-luc.alessandri@chu-reunion.fr.
  • Gordon CT; Laboratory of embryology and genetics of congenital malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Jacquemont ML; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Gruchy N; Unité de Génétique Médicale, Pole Femme-Mère-Enfant, Groupe Hospitalier Sud Réunion, CHU de La Réunion, La Réunion, France.
  • Ajeawung NF; Service de Génétique, UFR Santé Caen, Caen, France.
  • Benoist G; Centre de Recherche du CHU Sainte-Justine et Université de Montréal, Montréal, QC, Canada.
  • Oufadem M; Service de Génétique, UFR Santé Caen, Caen, France.
  • Chebil A; Laboratory of embryology and genetics of congenital malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Duffourd Y; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Dumont C; Service de Gynécologie-Obstétrique, CH Mamoudzou, Mayotte, France.
  • Gérard M; INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Kuentz P; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France.
  • Jouan T; Service de Gynécologie-Obstétrique, Pole Femme-mère-Enfant, Groupe Hospitalier Sud Réunion, CHU de La Réunion, La Réunion, France.
  • Filippini F; Service de Génétique, UFR Santé Caen, Caen, France.
  • Nguyen TTM; INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Alibeu O; INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
  • Bole-Feysot C; FHU-TRANSLAD, Université de Bourgogne/CHU, Dijon, France.
  • Nitschké P; Laboratory of embryology and genetics of congenital malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Omarjee A; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Ramful D; Centre de Recherche du CHU Sainte-Justine et Université de Montréal, Montréal, QC, Canada.
  • Randrianaivo H; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Doray B; Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Faivre L; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Amiel J; Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Campeau PM; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Thevenon J; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
Eur J Hum Genet ; 26(3): 340-349, 2018 03.
Article em En | MEDLINE | ID: mdl-29330547
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases / Deformidades Congênitas dos Membros / Efeito Fundador / Mutação com Perda de Função / Hérnia Diafragmática Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases / Deformidades Congênitas dos Membros / Efeito Fundador / Mutação com Perda de Função / Hérnia Diafragmática Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França