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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart, Melodie; Gazal, Steven; Arnaud, Pauline; Benarroch, Louise; Gross, Marie-Sylvie; Buratti, Julien; Boland, Anne; Meyer, Vincent; Zouali, Habib; Hanna, Nadine; Milleron, Olivier; Stheneur, Chantal; Bourgeron, Thomas; Desguerre, Isabelle; Jacob, Marie-Paule; Gouya, Laurent; Génin, Emmanuelle; Deleuze, Jean-François; Jondeau, Guillaume; Boileau, Catherine.
Afiliação
  • Aubart M; Laboratory for Vascular Translational Science, INSERM U1148, DHU FIRE, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Gazal S; Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades (APHP), 149 rue de Sèvres, Paris, 75015, France.
  • Arnaud P; INSERM, IAME, UMR 1137, Paris, 75018, France.
  • Benarroch L; Plateforme de génomique constitutionnelle du GHU Nord, Assistance Publique des Hôpitaux de Paris (APHP), Hôpital Bichat, Paris, 75018, France.
  • Gross MS; Laboratory for Vascular Translational Science, INSERM U1148, DHU FIRE, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Buratti J; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Boland A; Laboratory for Vascular Translational Science, INSERM U1148, DHU FIRE, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Meyer V; Laboratory for Vascular Translational Science, INSERM U1148, DHU FIRE, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Zouali H; Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, 75015, France.
  • Hanna N; CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, Paris, 75015, France.
  • Milleron O; Centre National de Génotypage, Institut de Génomique, Evry and Centre d'Etude du Polymorphisme Humain, 2 rue Gaston Crémieux, Paris, 91000, France.
  • Stheneur C; Centre National de Génotypage, Institut de Génomique, Evry and Centre d'Etude du Polymorphisme Humain, 2 rue Gaston Crémieux, Paris, 91000, France.
  • Bourgeron T; Centre National de Génotypage, Institut de Génomique, Evry and Centre d'Etude du Polymorphisme Humain, 2 rue Gaston Crémieux, Paris, 91000, France.
  • Desguerre I; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Jacob MP; Centre de Référence pour le Syndrome de Marfan et syndromes apparentés, Service de Cardiologie, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Gouya L; Centre de Référence pour le Syndrome de Marfan et syndromes apparentés, Service de Cardiologie, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France.
  • Génin E; Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, 75015, France.
  • Deleuze JF; CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, Paris, 75015, France.
  • Jondeau G; Université Paris 7 Denis Diderot, Paris, 75013, France.
  • Boileau C; Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades (APHP), 149 rue de Sèvres, Paris, 75015, France.
Eur J Hum Genet ; 26(12): 1759-1772, 2018 12.
Article em En | MEDLINE | ID: mdl-30087447
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Herança Multifatorial / Genes Modificadores / Síndrome de Marfan Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Herança Multifatorial / Genes Modificadores / Síndrome de Marfan Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article