المؤلفون: Zuriguel Iker, Janda Álvaro, Arévalo Roberto, Maza Diego, Garcimartín Ángel

المصدر: EPJ Web of Conferences, Vol 140, p 01002 (2017)

مصطلحات موضوعية: Physics, QC1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2100-014X

URL الوصول: https://doaj.org/article/90cbaf934d3d4ade9977913052295d61

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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