Interactive genetic counseling role-play: a novel educational strategy for family physicians.

Autor: Blaine SM, Carroll JC, Rideout AL, Glendon G, Meschino W, Shuman C, Telner D, Van Iderstine N, Permaul J

Publikováno v: Journal of Genetic Counseling; Apr2008, Vol. 17 Issue 2, p189-195, 7p

The mental health and traumatic experiences of mothers of children with 22q11DS.

Autor: Finless A; Department of Psychology/Neuroscience, Dalhousie University, Halifax, Canada., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Canada., Xiong T; Department of Psychiatry, Dalhousie University, Halifax, Canada., Carbyn H; Department of Psychiatry, Dalhousie University, Halifax, Canada., Lingley-Pottie P; Department of Psychiatry, Dalhousie University, Halifax, Canada., Palmer LD; Dalgish Family 22q Clinic, Department of Psychiatry and Division of Cardiology Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, Canada., Shugar A; Division of Clinical & Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada., McDonald-McGinn DM; Division of Human Genetics, 22q and You Center, Clinical Genetics Center, and Section of Genetic Counselling, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy., McGrath PJ; Department of Psychiatry, Dalhousie University, Halifax, Canada.; IWK Health Centre, Halifax, Canada., Bassett AS; Dalgish Family 22q Clinic, Department of Psychiatry and Division of Cardiology Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, Canada., Cytrynbaum C; Division of Clinical & Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada., Orr M; Department of Psychiatry, Dalhousie University, Halifax, Canada., Swillen A; Center for Human Genetics, UZ Leuven, Leuven, Belgium.; Department of Human Genetics, KU Leuven, Leuven, Belgium., Meier S; Department of Psychiatry, Dalhousie University, Halifax, Canada.; IWK Health Centre, Halifax, Canada.

Publikováno v: European journal of psychotraumatology [Eur J Psychotraumatol] 2024; Vol. 15 (1), pp. 2353532. Date of Electronic Publication: 2024 May 23.

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

Autor: Pinard A; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Fiander MDJ; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Cecchi AC; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Rideout AL; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Azouz M; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Fraser SM; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., McNeely PD; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Walling S; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Novara SC; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Hurst ACE; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Guo D; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Parkash S; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Bamshad MJ; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Nickerson DA; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Vandersteen AM; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School., Milewicz DM; From the Department of Internal Medicine (A.P., A.C.C., M.A., D.G., D.M.M.), McGovern Medical School, University of Texas Health Science Center at Houston; Maritime Medical Genetics Service (A.L.R., S.P., M.A.V.), Division of Neurosurgery (M.D.J.F., P.D.M., S.W.) and Department of Pediatrics (M.A.V.), Division of Medical Genetics, Dalhousie University, IWK Health Centre Halifax, Nova Scotia Canada; Department of Pediatrics (S.C.N.), Division of Child Neurology, and Department of Genetics (A.C.E.H.), University of Alabama at Birmingham; Department of Pediatrics (M.J.B., A.M.V.), Division of Genetics Medicine and Department of Genome Sciences (M.J.B., D.A.N.), University of Washington, Seattle; and Department of Pediatrics (S.M.F.), Division of Child Neurology, University of Texas McGovern Medical School. Dianna.M.Milewicz@uth.tmc.edu.

Publikováno v: Neurology [Neurology] 2021 Mar 30; Vol. 96 (13), pp. e1783-e1791. Date of Electronic Publication: 2021 Feb 10.

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.

Autor: Demo E; Sibley Heart Center Cardiology, 2835 Brandywine Road, Suite 300, Atlanta, GA 30341, USA., Rigelsky C; Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195, USA., Rideout AL; IWK Health Centre, 5850 University Avenue, PO Box 9700, Halifax, Nova Scotia B3K 6R8, Canada., Graf M; Stanford Health Care, 900 Blake Wilbur Drive, 3rd floor, Stanford, CA 94305, USA., Pariani M; Stanford School of Medicine, 300 Pasteur Drive, 2nd Floor, Room H2157, Stanford, CA 94305, USA., Regalado E; Invitae, 1400 16th Street, San Francisco, CA 94103, USA., MacCarrick G; Johns Hopkins School of Medicine, Blalock 1008, 600 North Wolfe Street, Baltimore, MD 21287, USA. Electronic address: goswald1@jhmi.edu.

Publikováno v: The Medical clinics of North America [Med Clin North Am] 2019 Nov; Vol. 103 (6), pp. 1005-1019. Date of Electronic Publication: 2019 Aug 31.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Autor: Schepers D; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Tortora G; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Policlinico Sant'Orsola-Malpighi, Bologna, Italy.; Department of Molecular and Clinical Sciences, Marche Polytechnic University, Ancona, Italy., Morisaki H; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan., MacCarrick G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland., Lindsay M; Thoracic Aortic Center, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston., Liang D; Cardiovascular Medicine, Stanford University Medical Center, Stanford, California., Mehta SG; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Hague J; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Verhagen J; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van de Laar I; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Wessels M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Detisch Y; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., van Haelst M; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Baas A; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Lichtenbelt K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Braun K; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., van der Linde D; Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands., Roos-Hesselink J; Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Meester J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique (IPG), Gosselies (Charleroi), Belgium., Coucke P; Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium., El-Khoury E; Department of Diagnostic Cardiology, Clinique St Luc, Bouge (Namur), Belgium., Parkash S; Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Diness B; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Risom L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Scurr I; Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan., Richer J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Désir J; Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, Belgium., Kempers M; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Horne G; Department of Medicine (Cardiology) and School of Biomedical Engineering, Dalhousie University, Halifax, Nova Scotia, Canada., Bennett C; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Rahikkala E; Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland., Vandeweyer G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Alaerts M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dietz H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys B; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2018 May; Vol. 39 (5), pp. 621-634. Date of Electronic Publication: 2018 Mar 06.