Your browser doesn't support javascript.
loading
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Assoum, Mirna; Lines, Matthew A; Elpeleg, Orly; Darmency, Véronique; Whiting, Sharon; Edvardson, Simon; Devinsky, Orrin; Heinzen, Erin; Hernan, Rebecca Rose; Antignac, Corinne; Deleuze, Jean-François; Des Portes, Vincent; Bertholet-Thomas, Aurélie; Belot, Alexandre; Geller, Eric; Lemesle, Martine; Duffourd, Yannis; Thauvin-Robinet, Christel; Thevenon, Julien; Chung, Wendy; Lowenstein, Daniel H; Faivre, Laurence.
Afiliação
  • Assoum M; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, Dijon, France.
  • Lines MA; Division of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Darmency V; Service de Neurophysiologie Clinique Pole Neurosciences Hôpital d'Enfants, Dijon, France.
  • Whiting S; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Devinsky O; NYU and Saint Barnabas Epilepsy Centers NYU School of Medicine, New York, New York.
  • Heinzen E; Institute for Genomic Medicine Columbia University Medical Center, New York, New York.
  • Hernan RR; Department of Pediatrics and Molecular Genetics, Columbia University, New York, New York.
  • Antignac C; Laboratoire de Génétique Moléculaire, Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades, Paris, France.
  • Deleuze JF; Equipe Néphropathies héréditaires et rein en développement, Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
  • Des Portes V; Centre National de Génotypage, Evry, France.
  • Bertholet-Thomas A; Centre de référence « Déficiences Intellectuelles de causes rares ¼, HFME, HCL F-69675, Bron, France.
  • Belot A; ISC CNRS UMR 5304, Université de Lyon, Lyon, France.
  • Geller E; Centre de référence des rhumatismes inflammatoires et des maladies auto-immunes systémiques rares de l'enfant (RAISE), HFME HCL INSERM U1111, Lyon, France.
  • Lemesle M; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hôpital Femme Mère Enfant Hospices Civils de Lyon GH Est, Bron, France.
  • Duffourd Y; Centre de référence des rhumatismes inflammatoires et des maladies auto-immunes systémiques rares de l'enfant (RAISE), HFME HCL INSERM U1111, Lyon, France.
  • Thauvin-Robinet C; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hôpital Femme Mère Enfant Hospices Civils de Lyon GH Est, Bron, France.
  • Thevenon J; NYU and Saint Barnabas Epilepsy Centers NYU School of Medicine, New York, New York.
  • Chung W; Service de Neurophysiologie Clinique Pole Neurosciences Hôpital d'Enfants, Dijon, France.
  • Lowenstein DH; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, Dijon, France.
  • Faivre L; Fédération Hospitalo-Universitaire TRANSLAD CHU Dijon et Université de Bourgogne-Franche Comté, Dijon, France.
Am J Med Genet A ; 176(11): 2470-2478, 2018 11.
Article em En | MEDLINE | ID: mdl-30244534
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA 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: Proteínas de Transporte / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França