BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Autor: Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

Publikováno v: In The American Journal of Human Genetics 4 August 2016 99(2):253-274

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Autor: Huang L; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Vanstone MR; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Hartley T; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Osmond M; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Barrowman N; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Allanson J; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Baker L; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware., Dabir TA; Clinical Genetics Department, Belfast City Hospital, Belfast, UK., Dipple KM; Department of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California., Dobyns WB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Estrella J; Department of Medical Genetics, Westmead Hospital, Sydney, Australia., Faghfoury H; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Favaro FP; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Goel H; Hunter Genetics, Newcastle, Waratah, Australia.; University of Newcastle, Newcastle - School of Medicine and Public Health, Faculty of Health, Callaghan, Australia., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware., Grix A; Department of Genetics, Permanente Medical Group, Roseville, California., Guion-Almeida ML; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Harr MH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania., Hudson C; Shodair Children's Hospital, Helena, Montana., Hunter AG; Medical Geneticist, Ottawa, Ontario, Canada., Johnson J; Shodair Children's Hospital, Helena, Montana.; Clinical Genetics and Metabolism, Floating Hospital for Children, Tufts Medical Center, Boston, Massachusetts., Joss SK; West of Scotland Clinical Genetics Service, South Glasgow University Hospital, Glasgow, UK., Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland., Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland., Lauzon J; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lildballe DL; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain.; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Martinezmoles J; Department of Genetics, Sacramento Medical Center, Sacramento, California., Meldrum C; NSW Health Pathology, Newcastle, Australia., Mirzaa GM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Morton JE; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK., Pyle LC; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California., Richer J; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Scheuerle AE; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Schönewolf-Greulich B; Genetic Counselling Clinic Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Shears DJ; Oxford Regional Genetics Service, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK., Silver J; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Smith AC; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK., van de Kamp JM; Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands., van Dijk FS; Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands., Vandersteen AM; Maritime Medical Genetics Service, IWKHealth Centre, Halifax, Nova Scotia, Canada., White SM; Victoria Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Zou R; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Bulman DE; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, The Children's Hospital of Eastern Ontario, Ottawa, Canada., Boycott KM; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Lines MA; The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Metabolics and Newborn Screening, Department of Pediatrics, The Children's Hospital of Eastern Ontario, Ottawa, Canada.

Publikováno v: Human mutation [Hum Mutat] 2016 Feb; Vol. 37 (2), pp. 148-54. Date of Electronic Publication: 2015 Nov 19.