About: Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2004 (fr) наукова стаття, опублікована в березні 2004 (uk) im März 2004 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55671012-C2114138-E05D-4D50-A118-65AC4E50497B
publication date	2004-03-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55671012-A6847CFC-A0B1-497B-8E13-81D5889025F2
language of work or name	English
exact match	wds:Q55671012-6111130B-60BC-434D-A6A2-FDDD6C7436BD
exact match	https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201119
cites work	wds:Q55671012-0BD3DF9F-CDEE-471F-B849-E5183152887C wds:Q55671012-0E30E539-5402-4971-903D-DD5B571A0EBF wds:Q55671012-22AC0B91-AF28-407A-96AF-1A9058977552 wds:Q55671012-26C21472-81E5-402D-9C59-86F576013A86 wds:Q55671012-2B286FCB-840B-41A7-B101-3B6F97311AFF wds:Q55671012-35B71AFF-5EAD-4B47-A9E8-0BCA89F5C0EE wds:Q55671012-3D2A23B3-224A-446D-BE3B-2DEA64A5674C wds:Q55671012-3F3AEC4D-B076-4BBA-A730-7EE6D6FBC5DA wds:Q55671012-3FFCBEA5-C3B1-40ED-BBBB-73E45D478F05 wds:Q55671012-44542380-E3A7-42F0-AE12-B6F54A037F1F wds:Q55671012-4BE07F59-A3C6-405D-8F9A-F3BE8DC04BCF wds:Q55671012-50ABBFBF-B91C-4BA6-BFE7-66B8C7D49230 wds:Q55671012-56087258-FB8D-458A-BFE9-5F10651BE25F wds:Q55671012-6922D080-F174-4F45-8A1E-FD4580A2FA9B wds:Q55671012-6EDF3C5B-9291-46D7-BBD0-225D64CB3EC0 wds:Q55671012-75EB426C-85E2-40D6-B0AD-DD262E43EFC1 wds:Q55671012-80FC74CA-2434-4F8C-9BFA-AA33670A4D5F wds:Q55671012-8679D7B3-A613-4C4B-91CE-5AA341A78A62 wds:Q55671012-9B68758F-A6A0-4F30-9B73-0B8ECA54301C wds:Q55671012-A3CEB06A-F3F9-48F1-A2BE-D18D942DE9D8 wds:Q55671012-A53777D6-A0AD-44F9-9005-F77E257E7B3B wds:Q55671012-B6231EB9-CE82-4017-8F49-3F743ADE2C20 wds:Q55671012-BCFC2364-80F7-483A-B92C-78E9DB7BAE3D wds:Q55671012-C458BF97-6E51-46F1-92AE-2BB35C90FBE6 wds:Q55671012-C580864B-5D37-4A6E-9133-F07E831B81AA wds:Q55671012-C7C1D3F1-BD30-41D0-A3EE-570E9181F6FD wds:Q55671012-D19C4DE6-236F-4418-B079-D5FFFA03827E wds:Q55671012-D54540DC-817C-46EA-B877-CC1CB78E5A2E wds:Q55671012-FD0CC90A-542D-4614-B52C-3A1A09205724
cites work	A second-generation linkage map of the human genome Risk factors for aortic dissection: a necropsy study of 161 cases Reference values for normal adult transesophageal echocardiographic measurements Familial patterns of thoracic aortic aneurysms. Two-dimensional echocardiographic aortic root dimensions in normal children and adults Epidemiology and clinicopathology of aortic dissection A General Model for the Genetic Analysis of Pedigree Data Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14 Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections Strategies for multilocus linkage analysis in humans Noonan syndrome and aortic coarctation Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation Aortic dissection and patent ductus arteriosus in three generations Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus Regressive logistic models for familial disease and other binary traits Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms Idiopathic Dilatation of the Aorta with Dissection in a Family without Marfan Syndrome Thoracic and thoracoabdominal aortic aneurysm and dissection: an investigation based on autopsy A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3 A Single Base Mutation in Type III Procollagen That Converts the Codon for Glycine 619 to Arginine in a Family with Familial Aneurysms and Mild Bleeding Tendencies Aorta and aortic valve morphologies predisposing to aortic dissection. An in vivo assessment with transoesophageal echocardiography Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome
author name string	wds:Q55671012-0EEFFEB0-7C02-457B-88B2-023C4D52F87D wds:Q55671012-114EAEF8-E24D-4CDC-9FE8-CB7C4EB0920D wds:Q55671012-4288BB69-1193-44E8-9509-CA74D1BD5FEC wds:Q55671012-5D683DB6-FCB8-4B14-B21B-A415C875C175 wds:Q55671012-5FC0FA31-7362-4787-A269-E7DE8F061550 wds:Q55671012-772CD394-BEE9-43A2-8A51-7FC64803C159 wds:Q55671012-7CC5BA67-333F-4EBE-8E68-FCB55C48B447 wds:Q55671012-9E6EEFCC-8D34-469B-AFD4-9EDACE743DB5 wds:Q55671012-BC84E3CE-F19E-4A7E-9D3A-F8EAD9E56D45 wds:Q55671012-C15ED2EA-0A22-4257-8971-A49AE070C2D7 wds:Q55671012-CC1150DA-A19B-4ED9-91B5-9EC87911192A
author name string	Limin Zhu François Brunotte Henri Plauchu Flavie Mathieu Gaëtan Lesca Jean-Eric Wolf Annie Nivelon-Chevallier Arnaud Dellinger Caroline Bonnet Nicolas Salve Philippe Khau Van Kien
rdfs:label	Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (en) Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (nl)
skos:prefLabel	Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (en) Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (nl)
name	Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (en) Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity (nl)
author	wds:Q55671012-053C4784-F0FA-468B-9F4F-F9129786C6BA wds:Q55671012-7B384D2F-542B-468C-9E2E-E9F78F9662E1
author	Xavier Jeunemaitre

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