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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Duijkers, Floor A; McDonald, Andrew; Janssens, Georges E; Lezzerini, Marco; Jongejan, Aldo; van Koningsbruggen, Silvana; Leeuwenburgh-Pronk, Wendela G; Wlodarski, Marcin W; Moutton, Sébastien; Tran-Mau-Them, Frédéric; Thauvin-Robinet, Christel; Faivre, Laurence; Monaghan, Kristin G; Smol, Thomas; Boute-Benejean, Odile; Ladda, Roger L; Sell, Susan L; Bruel, Ange-Line; Houtkooper, Riekelt H; MacInnes, Alyson W.
Afiliação
  • Duijkers FA; Amsterdam University Medical Centers, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • McDonald A; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Janssens GE; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Lezzerini M; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Jongejan A; Amsterdam University Medical Centers, University of Amsterdam, Bioinformatics Laboratory, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • van Koningsbruggen S; Amsterdam University Medical Centers, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Leeuwenburgh-Pronk WG; Amsterdam University Medical Centers, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Wlodarski MW; Department of Pediatric Hematology and Oncology, University of Freiburg, D-79106 Freiburg, Germany.
  • Moutton S; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire
  • Tran-Mau-Them F; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire
  • Thauvin-Robinet C; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire
  • Faivre L; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • Smol T; Université de Lille, EA 7364 - RADEME, F-59000 Lille, France; Centre Hospitalier Universitaire Lille, Institut de Génétique Médicale, F-59000 Lille, France.
  • Boute-Benejean O; Université de Lille, EA 7364 - RADEME, F-59000 Lille, France; Centre Hospitalier Universitaire Lille, Institut de Génétique Médicale, F-59000 Lille, France.
  • Ladda RL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA 17033, USA.
  • Sell SL; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA 17033, USA.
  • Bruel AL; Institut National de la Santé et de la Recherche Médicale UMR 1231 GAD, Génétique des Anomalies du Dévelopement, Université de Bourgogne-Franche Comté, F-21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire
  • Houtkooper RH; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • MacInnes AW; Amsterdam University Medical Centers, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address: a.w.macinnes@amc.nl.
Am J Hum Genet ; 104(6): 1040-1059, 2019 06 06.
Article em En | MEDLINE | ID: mdl-31079900
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Splicing de RNA / Regulação da Expressão Gênica / Genes Homeobox / Ribonucleoproteínas Nucleares Heterogêneas / Fibroblastos / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Splicing de RNA / Regulação da Expressão Gênica / Genes Homeobox / Ribonucleoproteínas Nucleares Heterogêneas / Fibroblastos / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos