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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Basilicata, M Felicia; Bruel, Ange-Line; Semplicio, Giuseppe; Valsecchi, Claudia Isabelle Keller; Aktas, Tugçe; Duffourd, Yannis; Rumpf, Tobias; Morton, Jenny; Bache, Iben; Szymanski, Witold G; Gilissen, Christian; Vanakker, Olivier; Õunap, Katrin; Mittler, Gerhard; van der Burgt, Ineke; El Chehadeh, Salima; Cho, Megan T; Pfundt, Rolph; Tan, Tiong Yang; Kirchhoff, Maria; Menten, Björn; Vergult, Sarah; Lindstrom, Kristin; Reis, André; Johnson, Diana S; Fryer, Alan; McKay, Victoria; Fisher, Richard B; Thauvin-Robinet, Christel; Francis, David; Roscioli, Tony; Pajusalu, Sander; Radtke, Kelly; Ganesh, Jaya; Brunner, Han G; Wilson, Meredith; Faivre, Laurence; Kalscheuer, Vera M; Thevenon, Julien; Akhtar, Asifa.
Afiliación
  • Basilicata MF; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Bruel AL; Inserm UMR 1231 GAD, Genetics of Developmental disorders and Centre de Référence Maladies Rares Anomalies du Développement et syndromes malformatifs FHU TRANSLAD, Université de Bourgogne-Franche Comté, Dijon, France.
  • Semplicio G; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Valsecchi CIK; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Aktas T; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Duffourd Y; Inserm UMR 1231 GAD, Genetics of Developmental disorders and Centre de Référence Maladies Rares Anomalies du Développement et syndromes malformatifs FHU TRANSLAD, Université de Bourgogne-Franche Comté, Dijon, France.
  • Rumpf T; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Bache I; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Szymanski WG; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Gilissen C; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • Vanakker O; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Õunap K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Mittler G; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • van der Burgt I; Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
  • El Chehadeh S; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Cho MT; Inserm UMR 1231 GAD, Genetics of Developmental disorders and Centre de Référence Maladies Rares Anomalies du Développement et syndromes malformatifs FHU TRANSLAD, Université de Bourgogne-Franche Comté, Dijon, France.
  • Pfundt R; Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
  • Tan TY; GeneDx, Gaithersburg, MD, USA.
  • Kirchhoff M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Menten B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne Department of Paediatrics, Parkville, VIC, Australia.
  • Vergult S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Lindstrom K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Reis A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Johnson DS; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Fryer A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • McKay V; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Fisher RB; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Francis D; Northern Genetics Service, Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK.
  • Roscioli T; Inserm UMR 1231 GAD, Genetics of Developmental disorders and Centre de Référence Maladies Rares Anomalies du Développement et syndromes malformatifs FHU TRANSLAD, Université de Bourgogne-Franche Comté, Dijon, France.
  • Pajusalu S; Cytogenetic Laboratory, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Radtke K; Neuroscience Research Australia, Sydney, New South Wales, Australia.
  • Ganesh J; Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
  • Brunner HG; Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Wilson M; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Faivre L; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Kalscheuer VM; Division of Genetics, Cooper University Hospital and Cooper Medical School at Rowan University, Camden, NJ, USA.
  • Thevenon J; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Akhtar A; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Nat Genet ; 50(10): 1442-1451, 2018 10.
Article en En | MEDLINE | ID: mdl-30224647
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Histonas / Enfermedades Genéticas Ligadas al Cromosoma X / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Histonas / Enfermedades Genéticas Ligadas al Cromosoma X / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos