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De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá, Maria J; Jensik, Philip J; McGee, Stacey R; Parker, Michael J; Lahiri, Nayana; McNeil, Evan P; Kroes, Hester Y; Hagerman, Randi J; Harrison, Rachel E; Montgomery, Tara; Splitt, Miranda; Palmer, Elizabeth E; Sachdev, Rani K; Mefford, Heather C; Scott, Abbey A; Martinez-Agosto, Julian A; Lorenz, Rüdiger; Orenstein, Naama; Berg, Jonathan N; Amiel, Jeanne; Heron, Delphine; Keren, Boris; Cobben, Jan-Maarten; Menke, Leonie A; Marco, Elysa J; Graham, John M; Pierson, Tyler Mark; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Manzini, M Chiara; Cauley, Edmund S; Colombo, Roberto; Odent, Sylvie; Dubourg, Christele; Phornphutkul, Chanika; de Brouwer, Arjan P M; de Vries, Bert B A; Vulto-vanSilfhout, Anneke T.
Afiliación
  • Nabais Sá MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA.
  • McGee SR; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA.
  • Parker MJ; Sheffield Clinical Genetics Service, OPD2 Northern General Hospital, Sheffield, UK.
  • Lahiri N; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust & St George's, University of London, London, UK.
  • McNeil EP; Dartmouth Geisel School of Medicine, Hanover, NH, USA.
  • Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Hagerman RJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis School of Medicine, Sacramento, Sacramento, CA, USA.
  • Harrison RE; Department of Pediatrics, University of California Davis Medical Center, Sacramento, Sacramento, CA, USA.
  • Montgomery T; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Palmer EE; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Sachdev RK; Sydney Children's Hospital, Randwick, NSW, Australia.
  • Mefford HC; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia.
  • Scott AA; Sydney Children's Hospital, Randwick, NSW, Australia.
  • Martinez-Agosto JA; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia.
  • Lorenz R; Department of Pediatrics, Division of Genetic Medicine, University of Washington-Seattle, Seattle, WA, USA.
  • Orenstein N; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
  • Berg JN; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Amiel J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Heron D; Ludwig-Konrad-Str. 14, Bad Wildungen, Germany.
  • Keren B; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Cobben JM; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Menke LA; Department of Clinical Genetics, Ninewells Hospital and Medical School, Dundee, Angus, UK.
  • Marco EJ; Clinical Genetics, University of Dundee, Dundee, Angus, UK.
  • Graham JM; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Pierson TM; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
  • Karimiani EG; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
  • Maroofian R; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • Manzini MC; North West Thames Genetics NHS, Northwick Park Hospital, London, UK.
  • Cauley ES; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • Colombo R; Department of Child Neurology, Cortica Healthcare, San Rafael, CA, USA.
  • Odent S; Division of Clinical Genetics and Dysmorphology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Dubourg C; Department of Pediatrics, Department of Neurology, and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Phornphutkul C; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
  • de Brouwer APM; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
  • de Vries BBA; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
  • Vulto-vanSilfhout AT; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Genet Med ; 21(9): 2059-2069, 2019 09.
Article en En | MEDLINE | ID: mdl-30923367
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Discapacidades del Desarrollo / Proteínas de Unión al ADN / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Discapacidades del Desarrollo / Proteínas de Unión al ADN / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article