Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jeng, L."'
Autor:
Chaudhry A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Noor A; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Degagne B; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Baker K; Department of Medical Genetics, Cambridge, UK.; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK., Bok LA; Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chung BH; Department of Pediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Reproduction, Development and Growth, Centre for Genomic Sciences, The University of Hong Kong, Pok Fu Lam, Hong Kong., Cytrynbaum C; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Dyment D; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Filges I; Division of Medical Genetics, Department of Biomedicine, University Hospital Basel, Basel, Switzerland., Helm B; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters/Eastern Virginia Medical School, Norfolk, VA, USA., Hutchison HT; Departments of Neurology and Pediatrics, UCSF Fresno Medical Education Program, San Francisco, CA, USA., Jeng LJ; Department of Laboratory Medicine, University of California, San Francisco, CA, USA., Laumonnier F; UMR_INSERM U930 Faculté de Médecine, Université François Rabelais, Tours, France., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Menzel M; CeGaT GmbH, Tuebingen, Germany., Parkash S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Dalhousie University Halifax, Nova Scotia, Canada., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield, UK., Raymond LF; Department of Medical Genetics, Cambridge, UK.; Institute for Medical Research Wellcome Trust, University of Cambridge, Cambridge, UK., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Roberts W; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada., Rupps R; Department of Medical Genetics, Children's and Women's Health Centre, University of British Columbia, Vancouver, BC, Canada., Schanze I; Institute of Human Genetics, University Hospital Magedeburg, Magedeburg, Germany., Schrander-Stumpel CT; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands., Speevak MD; Credit Valley Site, Trillium Health Partners, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Onatario, Canada., Stavropoulos DJ; Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Stevens SJ; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands., Thomas ER; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK., Toutain A; UMR_INSERM U930 Faculté de Médecine, Université François Rabelais, Tours, France.; Service de Génétique, Centre Hospitalo-Universitaire, Tours, France., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters/Eastern Virginia Medical School, Norfolk, VA, USA., Weksberg R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; McLaughlin Centre and Department of Molecular Genetics, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; McLaughlin Centre and Department of Molecular Genetics, Toronto, Ontario, Canada., Vincent JB; Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Institute of Medical Science, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada., Carter MT; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.
Publikováno v:
Clinical genetics [Clin Genet] 2015 Sep; Vol. 88 (3), pp. 224-33. Date of Electronic Publication: 2014 Oct 14.
Autor:
Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.
Publikováno v:
Clinical Genetics, 88(3), 224-233. Wiley
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. Deletions have been reported in PTCHD1 however there has be
Autor:
Noor, Abdul, Whibley, Annabel, Marshall, Christian, Gianakopoulos, Peter, Piton, Amelie, Carson, Andrew, Orlic-Milacic, Marija, Lionel, Anath, Sato, Daisuke, Pinto, Dalila, Drmic, Irene, Noakes, Carolyn, Senman, Lili, Zhang, Xiaoyun, Mo, Rong, Gauthier, Julie, Crosbie, Jennifer, Pagnamenta, Alistair, Munson, Jeffrey, Estes, Annette, Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Stewart, Alexandre, Roberts, Robert, McPherson, Ruth, Guter, Stephen, Cook, Edwin, Dawson, Geraldine, Schellenberg, Gerard, Battaglia, Agatino, Maestrini, Elena, Betancur, Catalina, Jeng, Linda, Hutchison, Terry, Rajcan-Separovic, Evica, Chudley, Albert, Lewis, Suzanne, Liu, Xudong, Holden, Jeanette, Fernandez, Bridget, Zwaigenbaum, Lonnie, Bryson, Susan, Roberts, Wendy, Szatmari, Peter, Gallagher, Louise, Stratton, Michael, Gecz, Jozef, Brady, Angela, Schwartz, Charles, Schachar, Russell, Monaco, Anthony, Rouleau, Guy, Hui, Chi-Chung, Lucy Raymond, F., Scherer, Stephen, Vincent, John
Publikováno v:
Science Translational Medicine
Science Translational Medicine, American Association for the Advancement of Science, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Science Translational Medicine, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Science Translational Medicine, American Association for the Advancement of Science, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Science Translational Medicine, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
International audience; Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60a79bc2ef5b247b1d5ff8ed0549fac
https://www.hal.inserm.fr/inserm-03135307
https://www.hal.inserm.fr/inserm-03135307