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: Murad AM; Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Hill HL; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Wang Y; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Ghannam M; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Yang ML; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Pugh NL; Biostatistics and Epidemiology Division, Center for Clinical Research Network Coordination, RTI International, Research Triangle Park, North Carolina, USA., Asch FM; MedStar Health Research Institute, Hyattsville, Maryland, USA., Hornsby W; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Cardiovascular Health Improvement Project (CHIP) Biorepository, Ann Arbor, Michigan, USA., Driscoll A; Cardiovascular Health Improvement Project (CHIP) Biorepository, Ann Arbor, Michigan, USA., McNamara J; Cardiovascular Health Improvement Project (CHIP) Biorepository, Ann Arbor, Michigan, USA., Willer CJ; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA., Regalado ES; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Eagle KA; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Ganesh SK; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

مؤلفون مشاركون: GenTAC Investigators, Montalcino Aortic Consortium Investigators

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1448-1456. Date of Electronic Publication: 2022 Jan 29.

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: Coronary Vessel Anomalies*/epidemiology , Coronary Vessel Anomalies*/genetics , Ehlers-Danlos Syndrome*/genetics , Loeys-Dietz Syndrome*/complications , Loeys-Dietz Syndrome*/epidemiology , Loeys-Dietz Syndrome*/genetics , Vascular Diseases*/congenital , Vascular Diseases*/epidemiology , Vascular Diseases*/genetics, Genetic Predisposition to Disease ; Humans ; Risk Factors

SCR Disease Name: Coronary Artery Dissection, Spontaneous

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: Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address: shalhub@uw.edu., Byers PH; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Wash., Hicks KL; Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash., Coleman DM; Section of Vascular Surgery, University of Michigan, Ann Arbor, Mich., Davis FM; Section of Vascular Surgery, University of Michigan, Ann Arbor, Mich., De Caridi G; Department of Cardiovascular and Thoracic Sciences, University of Messina, Messina, Italy., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Miller EM; Divisions of Cardiology and Human Genetics, University of Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Schermerhorn ML; Division of Vascular and Endovascular Surgery, Beth Israel Deaconess Medical Center, Boston, Mass., Shean K; Division of Vascular and Endovascular Surgery, Beth Israel Deaconess Medical Center, Boston, Mass., Oderich G; Mayo Clinic Division of Vascular Surgery, Rochester, Minn., Ribeiro M; Division of Vascular and Endovascular Surgery, Department of Surgery and Anatomy, Medical School of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Nishikawa C; Department of Surgery, University of California, Davis Medical Center, Sacramento, Calif., Charlton-Ouw K; Department of Cardiothoracic and Vascular Surgery, University of Texas Health Science Center at Houston, Houston, Tex., Behrendt CA; Department of Vascular Medicine, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Debus ES; Department of Cardiology, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., von Kodolitsch Y; Department of Cardiology, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zarkowsky D; Division of Vascular and Endovascular Surgery, Department of Surgery, University of California San Francisco, San Francisco, Calif., Powell RJ; Division of Vascular Surgery, Dartmouth-Hitchcock Medical Center, Lebanon, NH., Pepin M; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Wash., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex., Regalado ES; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex., Lawrence PF; Division of Vascular Surgery, University of California Los Angeles, Los Angeles, Calif., Woo K; Division of Vascular Surgery, University of California Los Angeles, Los Angeles, Calif.

المصدر: Journal of vascular surgery [J Vasc Surg] 2020 Jan; Vol. 71 (1), pp. 149-157. Date of Electronic Publication: 2019 Jul 26.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8407742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6809 (Electronic) Linking ISSN: 07415214 NLM ISO Abbreviation: J Vasc Surg Subsets: MEDLINE

مواضيع طبية MeSH: DNA Mutational Analysis* , Mutation*, Collagen Type III/*genetics , Ehlers-Danlos Syndrome/*diagnosis, Adolescent ; Adult ; Cross-Sectional Studies ; Diagnosis, Differential ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/genetics ; Female ; Genetic Predisposition to Disease ; Germany ; Humans ; Italy ; Male ; Middle Aged ; Phenotype ; Predictive Value of Tests ; Prognosis ; Retrospective Studies ; Risk Assessment ; Risk Factors ; United States ; Young Adult

المؤلفون: Hanania HL; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.).; Program in Biochemistry and Cell Biology, Rice University, Houston, TX (H.L.H.)., Regalado ES; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.)., Guo DC; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.)., Xu L; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.)., Demo E; Pediatric Cardiology Division, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA (E.D., D.S.)., Sallee D; Pediatric Cardiology Division, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA (E.D., D.S.)., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Dec; Vol. 12 (12), pp. e002626. Date of Electronic Publication: 2019 Nov 15.

نوع المنشور: Letter; Research Support, N.I.H., Extramural; Comment

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection* , Aortic Aneurysm, Thoracic* , Cardiomyopathies*, Humans ; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels ; Muscle Proteins ; Pedigree ; Potassium Channels

المؤلفون: Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash. Electronic address: shalhub@uw.edu., Byers PH; Departments of Pathology and Medicine (Medical Genetics), University of Washington School of Medicine, Seattle, Wash., Hicks KL; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash., Charlton-Ouw K; Department of Cardiothoracic and Vascular Surgery, University of Texas Health Science Center at Houston, Houston, Tex., Zarkowsky D; Division of Vascular and Endovascular Surgery, Department of Surgery, University of California San Francisco, San Francisco, Calif., Coleman DM; Section of Vascular Surgery, Department of Surgery, University of Michigan, Ann Arbor, Mich., Davis FM; Section of Vascular Surgery, Department of Surgery, University of Michigan, Ann Arbor, Mich., Regalado ES; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex., De Caridi G; Department of Cardiovascular and Thoracic Sciences, University of Messina, Messina, Italy., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Miller EM; Divisions of Cardiology and Human Genetics, University of Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Schermerhorn ML; Division of Vascular and Endovascular Surgery, Beth Israel Deaconess Medical Center, Boston, Mass., Shean K; Division of Vascular and Endovascular Surgery, Beth Israel Deaconess Medical Center, Boston, Mass., Oderich G; Division of Vascular Surgery, Mayo Clinic, Rochester, Minn., Ribeiro M; Division of Vascular and Endovascular Surgery, Department of Surgery and Anatomy, Medical School of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Nishikawa C; Department of Surgery, University of California, Davis Medical Center, Sacramento, Calif., Behrendt CA; Department of Vascular Medicine, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Debus ES; Department of Cardiology, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., von Kodolitsch Y; Department of Cardiology, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Powell RJ; Division of Vascular Surgery, Dartmouth-Hitchcock Medical Center, Lebanon, NH., Pepin M; Departments of Pathology and Medicine (Medical Genetics), University of Washington School of Medicine, Seattle, Wash., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex., Lawrence PF; Division of Vascular Surgery, University of California Los Angeles, Los Angeles, Calif., Woo K; Division of Vascular Surgery, University of California Los Angeles, Los Angeles, Calif.

المصدر: Journal of vascular surgery [J Vasc Surg] 2019 Nov; Vol. 70 (5), pp. 1543-1554. Date of Electronic Publication: 2019 May 21.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8407742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6809 (Electronic) Linking ISSN: 07415214 NLM ISO Abbreviation: J Vasc Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aneurysm/*epidemiology , Aorta/*pathology , Arteries/*pathology , Collagen Type III/*genetics , Ehlers-Danlos Syndrome/*complications, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Aneurysm/genetics ; Aneurysm/pathology ; Aneurysm/therapy ; Aorta/surgery ; Arteries/surgery ; Child ; Child, Preschool ; Collagen Type III/metabolism ; Cross-Sectional Studies ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/pathology ; Embolization, Therapeutic/statistics & numerical data ; Endovascular Procedures/methods ; Endovascular Procedures/statistics & numerical data ; Female ; Follow-Up Studies ; Genetic Testing/statistics & numerical data ; Humans ; Infant ; Male ; Middle Aged ; Mutation, Missense ; Retrospective Studies ; Young Adult

المؤلفون: Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash. Electronic address: shalhub@uw.edu., Regalado ES; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex., Guo DC; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex.

مؤلفون مشاركون: Montalcino Aortic Consortium

المصدر: Journal of vascular surgery [J Vasc Surg] 2019 Sep; Vol. 70 (3), pp. 718-723. Date of Electronic Publication: 2019 Mar 11.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8407742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6809 (Electronic) Linking ISSN: 07415214 NLM ISO Abbreviation: J Vasc Surg Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics , Cyclic GMP-Dependent Protein Kinase Type I/*genetics, Adolescent ; Adult ; Aortic Dissection/diagnostic imaging ; Aortic Dissection/enzymology ; Aortic Dissection/therapy ; Aortic Aneurysm, Thoracic/diagnostic imaging ; Aortic Aneurysm, Thoracic/enzymology ; Aortic Aneurysm, Thoracic/therapy ; Female ; Genetic Predisposition to Disease ; Heredity ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Prognosis ; Retrospective Studies ; Risk Factors ; United States ; Young Adult

المؤلفون: Duan XY; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA., Guo DC; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA., Regalado ES; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA., Shen H; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA.; Department of Emergency Medicine, Zhongshan Hospital, Fudan University, Shanghai, China., Coselli JS; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, USA., Estrera AL; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, USA., Safi HJ; Department of Cardiothoracic Vascular Surgery, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., LeMaire SA; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, USA.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, USA., De Backer J; Center for Medical Genetics, Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Milewicz DM; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA. Dianna.M.Milewicz@uth.tmc.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jul; Vol. 27 (7), pp. 1054-1060. Date of Electronic Publication: 2019 Feb 26.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection*/genetics , Aortic Dissection*/metabolism , Aortic Aneurysm, Thoracic*/genetics , Aortic Aneurysm, Thoracic*/metabolism , Family* , Mutation, Missense* , Smad4 Protein*/genetics , Smad4 Protein*/metabolism, Amino Acid Substitution ; Female ; Humans ; Male ; Middle Aged ; Proteasome Endopeptidase Complex/genetics ; Proteasome Endopeptidase Complex/metabolism ; Proteolysis ; Ubiquitination/genetics