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

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

المؤلفون: LeBlanc MA; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., Gough A; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., Rideout AL; IWK Maritime Medical Genetics, Halifax, NS, Canada., Dyack S; Nova Scotia Health, Halifax, NS, Canada.; IWK Maritime Medical Genetics, Halifax, NS, Canada., Singh K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., MacNeil M; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada.

المصدر: Journal of geriatric psychiatry and neurology [J Geriatr Psychiatry Neurol] 2024 Mar; Vol. 37 (2), pp. 157-162. Date of Electronic Publication: 2023 Aug 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: United States NLM ID: 8805645 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0891-9887 (Print) Linking ISSN: 08919887 NLM ISO Abbreviation: J Geriatr Psychiatry Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/diagnosis , Amyotrophic Lateral Sclerosis*/genetics , Frontotemporal Dementia*/diagnosis , Frontotemporal Dementia*/genetics, Humans ; Male ; C9orf72 Protein/genetics ; DNA Repeat Expansion ; Mutation ; Adult

المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101559025 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2000-8066 (Electronic) Linking ISSN: 20008066 NLM ISO Abbreviation: Eur J Psychotraumatol Subsets: MEDLINE

مواضيع طبية MeSH: Mothers*/psychology, Humans ; Female ; Adult ; Child ; Male ; Surveys and Questionnaires ; Mental Health ; Stress Disorders, Post-Traumatic/psychology ; 22q11 Deletion Syndrome/psychology ; Adolescent ; Neurodevelopmental Disorders/psychology ; Middle Aged ; Caregivers/psychology

المؤلفون: Cosman T; Department of Psychology/Neuroscience, Dalhousie University, Halifax, Nova Scotia, Canada., Finless A; Department of Psychology/Neuroscience, Dalhousie University, Halifax, Nova Scotia, Canada., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Lingley-Pottie P; Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada., Palmer LD; Dalgish Family 22q Clinic, Department of Psychiatry, Division of Cardiology Department of Medicine, Toronto General Hospital Research Institute, University Health Network, Clinical Genetics Research Program, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada., Shugar A; Division of Clinical and Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, 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, University of Pennsylvania, Philadelphia, PA, USA., Swillen A; Center for Human Genetics, UZ Leuven, Department of Human Genetics, KU Leuven, Leuven, Belgium., McGrath PJ; Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada.; Department of Psychiatry and Specific Care Clinics, IWK Health Centre, Halifax, Nova Scotia, Canada., Bassett AS; Dalgish Family 22q Clinic, Department of Psychiatry, Division of Cardiology Department of Medicine, Toronto General Hospital Research Institute, University Health Network, Clinical Genetics Research Program, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Department of Psychiatry and Division of Cardiology Department of Medicine, and Toronto General Hospital Research Institute, University Health Network; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics and the Department of Genetic Counselling, the Hospital for Sick Children, Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Orr M; Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada., Meier S; Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada.; Department of Psychiatry and Specific Care Clinics, IWK Health Centre, Halifax, Nova Scotia, Canada.

المصدر: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2023 Sep; Vol. 67 (9), pp. 860-868. Date of Electronic Publication: 2023 Jul 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

مواضيع طبية MeSH: Caregivers*/psychology , DiGeorge Syndrome*/psychology, Humans ; Family/psychology ; Surveys and Questionnaires ; Peer Group

المؤلفون: 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.

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

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Adenosine Triphosphatases/*genetics , Moyamoya Disease/*genetics , Ubiquitin-Protein Ligases/*genetics, Adult ; Age of Onset ; Aortic Diseases/genetics ; Aortic Diseases/physiopathology ; Arterial Occlusive Diseases/genetics ; Arterial Occlusive Diseases/physiopathology ; Child, Preschool ; Female ; Femoral Artery ; Humans ; Iliac Artery ; Male ; Moyamoya Disease/physiopathology ; Mutation ; Renal Artery Obstruction/genetics ; Renal Artery Obstruction/physiopathology

المؤلفون: Karoulias SZ; Orthopaedic Research Laboratories, Leni & Peter W. May Department of Orthopaedics, Icahn School of Medicine at Mt. Sinai, New York, NY, USA., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Belgium; Department of Dermatology, Ghent University Hospital, Ghent, Belgium., Balic Z; Orthopaedic Research Laboratories, Leni & Peter W. May Department of Orthopaedics, Icahn School of Medicine at Mt. Sinai, New York, NY, USA., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Belgium., Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, NS, Canada., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, NS, Canada., Dickinson J; Department of Ophthalmology & Visual Sciences, Dalhousie University, Halifax, NS, Canada., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Belgium. Electronic address: Bert.Callewaert@Ugent.be., Hubmacher D; Orthopaedic Research Laboratories, Leni & Peter W. May Department of Orthopaedics, Icahn School of Medicine at Mt. Sinai, New York, NY, USA. Electronic address: dirk.hubmacher@mssm.edu.

المصدر: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2020 Jun; Vol. 88, pp. 1-18. Date of Electronic Publication: 2019 Nov 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, ADAMTS Proteins/*genetics , Collagen Type I/*metabolism , Extracellular Matrix/*metabolism , Fibrillin-1/*metabolism , Weill-Marchesani Syndrome/*genetics, ADAMTS Proteins/chemistry ; ADAMTS Proteins/metabolism ; Catalytic Domain ; Cell Line ; Dermis/cytology ; Dermis/metabolism ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; HEK293 Cells ; Humans ; Microscopy, Electron, Transmission ; Middle Aged ; Models, Molecular ; Pedigree ; Weill-Marchesani Syndrome/metabolism

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: W B Saunders Country of Publication: United States NLM ID: 2985236R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9859 (Electronic) Linking ISSN: 00257125 NLM ISO Abbreviation: Med Clin North Am Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Diseases*/genetics , Aortic Diseases*/therapy, Aorta, Thoracic/*abnormalities , Genetic Testing/*methods , Patient Care Management/*methods, Humans ; Precision Medicine/methods

المؤلفون: Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Guo DC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Hanna N; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Arnaud P; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Muiño-Mosquera L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wallace SE; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Dyack S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Aatre RD; Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Boileau C; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Centre de référence pour le syndrome de Marfan et apparentés, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Faculté Paris Diderot, LVTS INSERM U 1148, Paris, France., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Jondeau G; Centre de référence pour le syndrome de Marfan et apparentés, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Faculté Paris Diderot, LVTS INSERM U 1148, Paris, France.; Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA.

المصدر: Journal of medical genetics [J Med Genet] 2019 Apr; Vol. 56 (4), pp. 252-260. Date of Electronic Publication: 2019 Jan 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Genetic Predisposition to Disease* , Genetic Variation* , Phenotype*, Aortic Aneurysm, Thoracic/*diagnosis , Aortic Aneurysm, Thoracic/*genetics , Smad3 Protein/*genetics, Adolescent ; Adult ; Aged ; Alleles ; Amino Acid Substitution ; Aortic Aneurysm, Thoracic/complications ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Prognosis ; Protein Domains/genetics ; Risk Factors ; Smad3 Protein/chemistry

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Loeys-Dietz Syndrome/*genetics , Mutation/*genetics , Smad2 Protein/*genetics , Smad3 Protein/*genetics , Transforming Growth Factor beta2/*genetics , Transforming Growth Factor beta3/*genetics, Animals ; Disease Models, Animal ; Humans ; Loeys-Dietz Syndrome/diagnosis ; Mice ; Signal Transduction/genetics

المؤلفون: Aronson M; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Gallinger S; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Cohen Z; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Cohen S; Pediatric Gastro-Enterology Unit, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Dvir R; Department of Pediatric Hemato-Oncology, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Elhasid R; Department of Pediatric Hemato-Oncology, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Baris HN; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel, and Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Kariv R; Department of Gastroenterology and Liver Disease, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Druker H; Hospital for Sick Children, Toronto, Ontario, Canada., Chan H; Hospital for Sick Children, Toronto, Ontario, Canada., Ling SC; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Kortan P; St Michael's Hospital, Toronto, Ontario, Canada., Holter S; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Semotiuk K; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Malkin D; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Farah R; Saint George Hospital University Medical Center, Beirut, Lebanon., Sayad A; Lebanese American University Medical Centre, Beirut, Lebanon., Heald B; Cleveland Clinic, Cleveland, Ohio, USA., Kalady MF; Cleveland Clinic, Cleveland, Ohio, USA., Penney LS; IWK Health Centre, Halifax, Nova Scotia, Canada., Rideout AL; IWK Health Centre, Halifax, Nova Scotia, Canada., Rashid M; IWK Health Centre, Halifax, Nova Scotia, Canada., Hasadsri L; Mayo Clinic, Rochester, Minnesota, USA., Pichurin P; Mayo Clinic, Rochester, Minnesota, USA., Riegert-Johnson D; Mayo Clinic, Jacksonville, Florida, USA., Campbell B; Hospital for Sick Children, Toronto, Ontario, Canada., Bakry D; Hospital for Sick Children, Toronto, Ontario, Canada., Al-Rimawi H; Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan., Alharbi QK; Department of Pediatric Hematology/Oncology and Stem Cell Transplant, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Alharbi M; King Fahad Medical City, Riyadh, Saudi Arabia., Shamvil A; Children Cancer Hospital, Karachi, Pakistan., Tabori U; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Durno C; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada.; Hospital for Sick Children, Toronto, Ontario, Canada.

المصدر: The American journal of gastroenterology [Am J Gastroenterol] 2016 Feb; Vol. 111 (2), pp. 275-84. Date of Electronic Publication: 2016 Jan 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 0421030 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1572-0241 (Electronic) Linking ISSN: 00029270 NLM ISO Abbreviation: Am J Gastroenterol Subsets: MEDLINE

مواضيع طبية MeSH: Adenocarcinoma/*surgery , Adenoma/*surgery , Brain Neoplasms/*physiopathology , Colorectal Neoplasms/*surgery , Intestine, Small/*surgery , Neoplastic Syndromes, Hereditary/*physiopathology, Adaptor Proteins, Signal Transducing/genetics ; Adenocarcinoma/etiology ; Adenocarcinoma/genetics ; Adenoma/etiology ; Adenoma/genetics ; Adenosine Triphosphatases/genetics ; Adolescent ; Adult ; Alleles ; Brain Neoplasms/complications ; Brain Neoplasms/etiology ; Brain Neoplasms/genetics ; Child ; Child, Preschool ; Colorectal Neoplasms/complications ; Colorectal Neoplasms/etiology ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/physiopathology ; DNA Repair Enzymes/genetics ; DNA-Binding Proteins/genetics ; Female ; Germ-Line Mutation ; Glioma/etiology ; Humans ; Intestinal Neoplasms/etiology ; Intestinal Neoplasms/genetics ; Intestinal Neoplasms/surgery ; Kidney Neoplasms/etiology ; Leukemia/etiology ; Lymphoma/etiology ; Male ; Melanoma/etiology ; Mismatch Repair Endonuclease PMS2 ; MutL Protein Homolog 1 ; Neoplastic Syndromes, Hereditary/complications ; Neoplastic Syndromes, Hereditary/genetics ; Nuclear Proteins/genetics ; Phenotype ; Prospective Studies ; Retrospective Studies ; Wilms Tumor/etiology ; Young Adult

SCR Disease Name: Turcot syndrome