المؤلفون: Guo, DC, Grove, ML, Prakash, SK, Eriksson, P, Hostetler, EM, LeMaire, SA, Body, SC, Shalhub, S, Estrera, AL, Safi, HJ, Regalado, ES, Zhou, W, Mathis, MR, Eagle, KA, Yang, B, Willer, CJ, Boerwinkle, E, Milewicz, DM

المصدر: American journal of human genetics. 99(3):762-769

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134264358

المؤلفون: Ellen S, Regalado, Shaine A, Morris, Alan C, Braverman, Ellen M, Hostetler, Julie, De Backer, Ruosha, Li, Reed E, Pyeritz, Anji T, Yetman, Elena, Cervi, Sherene, Shalhub, Richmond, Jeremy, Scott, LeMaire, Maral, Ouzounian, Arturo, Evangelista, Catherine, Boileau, Guillaume, Jondeau, Dianna M, Milewicz

المساهمون: Institut Català de la Salut, [Regalado ES, Hostetler EM] Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA. [Morris SA] Division of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas, USA. [Braverman AC] Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USA. [De Backer J] Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group. [Li R] Department of Biostatistics and Data Science, School of Public Health, UTHealth, Houston, Texas, USA. [Evangelista A] European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group. Servei de Cardiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER-CV, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

مصطلحات موضوعية: Aortic Aneurysm, Thoracic, Otros calificadores::Otros calificadores::/genética [Otros calificadores], precision medicine, Receptor, Transforming Growth Factor-beta Type II, thoracic aortic aneurysm, Aneurismes aòrtics - Aspectes genètics, Loeys-Dietz syndrome, Aneurismes aòrtics - Factors de risc, técnicas de investigación::métodos epidemiológicos::estadística como asunto::probabilidad::riesgo::factores de riesgo [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Cardiovascular Diseases::Vascular Diseases::Aneurysm::Aortic Aneurysm::Aortic Aneurysm, Thoracic [DISEASES], Aorta - Dissecció, Aortic Dissection, pathogenic variant, enfermedades cardiovasculares::enfermedades vasculares::aneurisma::aneurisma de la aorta::aneurisma de la aorta torácica [ENFERMEDADES], Cardiovascular Diseases::Vascular Diseases::Aneurysm::Aneurysm, Dissecting [DISEASES], Mutation, Medicine and Health Sciences, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], aortic dissection, enfermedades cardiovasculares::enfermedades vasculares::aneurisma::aneurisma disecante [ENFERMEDADES], Child, Cardiology and Cardiovascular Medicine, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d1dd047cab74d5e5924d446265fa06c
https://hdl.handle.net/11351/8431

المؤلفون: Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Morris SA; Division of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas, USA., Braverman AC; Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USA., Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., De Backer J; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group., Li R; Department of Biostatistics and Data Science, School of Public Health, UTHealth, Houston, Texas, USA., Pyeritz RE; Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Yetman AT; Division of Pediatric Cardiology, Children's Hospital & Medical Center, University of Nebraska Medical Center, Omaha, Nebraska, USA., Cervi E; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Shalhub S; Department of Vascular Surgery, University of Washington, Seattle, Washington, USA., Jeremy R; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., LeMaire S; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA., Ouzounian M; Division of Cardiovascular Surgery, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada., Evangelista A; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group; Department of Cardiology, Hospital Vall d'Hebron, Vall d'Hebron Research Institute, CIBER-CV, Barcelona, Spain., Boileau C; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group; CRMR Syndrome de Marfan et apparentés, Department of Cardiology, AP-HP, INSERM U1148, Hopital Bichat, Université de Paris, Paris, France., Jondeau G; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), Heritable Thoracic Aortic Disease Working Group; CRMR Syndrome de Marfan et apparentés, Department of Cardiology, AP-HP, INSERM U1148, Hopital Bichat, Université de Paris, Paris, France., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA. Electronic address: Dianna.M.Milewicz@uth.tmc.edu.

المصدر: Journal of the American College of Cardiology [J Am Coll Cardiol] 2022 Aug 30; Vol. 80 (9), pp. 857-869.

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

بيانات الدورية: Publisher: Elsevier Biomedical Country of Publication: United States NLM ID: 8301365 Publication Model: Print Cited Medium: Internet ISSN: 1558-3597 (Electronic) Linking ISSN: 07351097 NLM ISO Abbreviation: J Am Coll Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection*/genetics , Aortic Aneurysm, Thoracic*/genetics, Child ; Humans ; Mutation ; Receptor, Transforming Growth Factor-beta Type II/genetics ; Retrospective Studies

المؤلفون: Kaw A; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Kaw K; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Hostetler EM; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Beleza-Meireles A; Bristol Regional Clinical Genetics Service, St Michael's Hospital, Bristol, UK., Smith-Collins A; Regional Neonatal Intensive Care Unit, St Michael's Hospital, Bristol, UK., Armstrong C; Bristol Royal Hospital for Children, Bristol, UK., Scurr I; Bristol Regional Clinical Genetics Service, St Michael's Hospital, Bristol, UK., Cotts T; Division of Pediatric Cardiology, Department of Pediatrics, Michigan Medicine, University of Michigan at Ann Arbor, Ann Arbor, Michigan, USA., Aatre R; Franklin Cardiovascular Center, Department of Internal Medicine, Michigan Medicine, University of Michigan at Ann Arbor, Ann Arbor, Michigan, USA., Bamshad MJ; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Earl D; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Groner A; Division of Cardiology, Department of Pediatrics, The University of Chicago, Chicago, Illinois, USA., Agre K; Invitae, San Francisco, California, USA., Raveh Y; Department of Anesthesia, University of Miami/Jackson Memorial Hospital, Miami, Florida, USA., Kwartler CS; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Milewicz DM; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2389-2396. Date of Electronic Publication: 2022 May 14.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Actins*/genetics , Aortic Aneurysm, Thoracic*/diagnosis , Aortic Aneurysm, Thoracic*/genetics , Cerebrovascular Disorders* , Ductus Arteriosus, Patent*/genetics , Moyamoya Disease*/genetics, Heterozygote ; Humans ; Muscle, Smooth ; Mutation ; Phenotype

المؤلفون: Musfee FI; Department of Epidemiology, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Pinard AC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Blue EE; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Nickerson DA; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Bamshad MJ; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Prakash SK; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics (UW-CMG)

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1406. Date of Electronic Publication: 2020 Aug 03.

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

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Aneurysm, Thoracic/*genetics , Bicuspid Aortic Valve Disease/*genetics , GATA4 Transcription Factor/*genetics , Receptor, Notch1/*genetics , Receptors, Cell Surface/*genetics , Smad6 Protein/*genetics, Adult ; Aortic Aneurysm, Thoracic/complications ; Aortic Aneurysm, Thoracic/pathology ; Bicuspid Aortic Valve Disease/complications ; Bicuspid Aortic Valve Disease/pathology ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Mutation

المؤلفون: Pinard A; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Guey S; INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Cecchi AC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Kharas N; Department of Neurobiology and Anatomy, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Wallace S; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Sharrief AZ; Department of Neurology, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Bergametti F; INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Kossorotoff M; AP-HP, French Center for Pediatric Stroke and Pediatric Neurology Department, University Hospital Necker-Enfants Malades, Paris, France., Hervé D; AP-HP, Service de neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de L'œil, Groupe Hospitalier Lariboisière Saint Louis, Paris, France., Kraemer M; Department of Neurology Alfried Krupp-Hospital, Essen and Department of Neurology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Smith ER; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Tournier-Lasserve E; INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.; AP-HP, Service de génétique moléculaire neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'œil, Groupe Hospitalier Saint-Louis Lariboisière, Paris, France., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA. Dianna.M.Milewicz@uth.tmc.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 427-431. Date of Electronic Publication: 2019 Sep 02.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Cerebrovascular Disorders/*genetics , Moyamoya Disease/*genetics, Adult ; Cell Cycle Proteins/genetics ; Cerebrovascular Disorders/metabolism ; Child ; Child, Preschool ; DNA Helicases/genetics ; Developmental Disabilities/genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Methyltransferases/genetics ; Methyltransferases/metabolism ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/metabolism ; Middle Aged ; Mutation/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Exome Sequencing/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: Wallace SE; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Gong L; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Janda AL; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Guo DC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Russo CF; Division of Cardiac Surgery, Niguarda Ca' Granda Metropolital Hospital, Milan, Italy., Kulmacz RJ; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 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.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Jondeau G; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Boileau C; 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.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, 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.; Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., 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., Hannuksela M; Department of Surgical and Perioperative Sciences, Umeå University, Umeå, Sweden., Carlberg B; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden., Johnston T; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Antolik C; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Colombo R; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University, IRCCS Policlinico 'Agostino Gemelli', Rome, Italy., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA. Dianna.M.Milewicz@uth.tmc.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 144-151. Date of Electronic Publication: 2018 Jun 20.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , High-Throughput Nucleotide Sequencing*, Aortic Diseases/*genetics , Calcium-Binding Proteins/*genetics , Myosin-Light-Chain Kinase/*genetics, Adult ; Aged ; Aortic Dissection ; Aorta/pathology ; Aorta/surgery ; Aortic Diseases/pathology ; Aortic Diseases/surgery ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Pregnancy

المؤلفون: Guo DC; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Regalado ES; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Pinard A; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Chen J; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Lee K; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rigelsky C; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA., Zilberberg L; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA., Hostetler EM; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Aldred M; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA., Wallace SE; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Prakash SK; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Leal SM; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Natowicz M; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA., Rifkin DB; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address: dianna.m.milewicz@uth.tmc.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Apr 05; Vol. 102 (4), pp. 706-712.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics , Latent TGF-beta Binding Proteins/*genetics , Mutation/*genetics, Adult ; Aged, 80 and over ; Animals ; Blood Pressure/genetics ; Female ; Homozygote ; Humans ; Male ; Mice ; Middle Aged ; Pedigree

المؤلفون: Guo DC, Hostetler EM, Fan Y, Kulmacz RJ, Zhang D, Nickerson DA, Leal SM, LeMaire SA, Regalado ES, Milewicz DM

مؤلفون مشاركون: GenTAC Investigators

المصدر: Journal of the American College of Cardiology [J Am Coll Cardiol] 2017 Nov 28; Vol. 70 (21), pp. 2728-2730.

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

بيانات الدورية: Publisher: Elsevier Biomedical Country of Publication: United States NLM ID: 8301365 Publication Model: Print Cited Medium: Internet ISSN: 1558-3597 (Electronic) Linking ISSN: 07351097 NLM ISO Abbreviation: J Am Coll Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics, Adult ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged