Familial thoracic aortic aneurysms and dissections genetic: Heterogeneity with a major locus mapping to 5q13-14

Circulation

Volumn 103, Issue 20, 2001, Pages 2461-2468

  Guo, Dongchuan ^a   Hasham, Sumera ^a   Kuang, Shao Qing ^a   Vaughan, Carl J ^b   Boerwinkle, Eric ^a   Chen, Hua ^a   Abuelo, Dianne ^c   Dietz, Harry C ^d   Basson, Craig T ^b   Shete, Sanjay S ^e   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c BROWN UNIVERSITY   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Aneurysm; Aorta; Genetics

Indexed keywords

DNA; RNA; VERSICAN;

ANGIOGRAPHY; AORTA DISSECTION; ARTICLE; CHROMOSOME 5Q; CHROMOSOME MAP; COMPUTER ASSISTED TOMOGRAPHY; ECHOCARDIOGRAPHY; ECHOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM;

EID: 0035933045     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.103.20.2461     Document Type: Article

References (28)

1. Medionecrosis aortae idiopathica cystica
2. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
3. Familial aortic dissecting aneurysm
4. Association of congenital bicuspid aortic valve and Erdheim's cystic medial necrosis
5. 45,X Turner syndrome with normal ovarial function and multiple malformations of the aorta
6. Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall
7. A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease
8. The Marfan syndrome: Diagnosis and management
9. The Marfan syndrome
10. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
11. Mutations in the human gene for fibrillin-1 (FBNI) in the Marfan syndrome and related disorders
12. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes
13. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
14. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
15. Two-dimensional echocardiographic aortic root dimensions in normal children and adults
16. A moleucular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
17. The affected-pedigree-member method of linkage analysis
18. Heterogeneity for multiple disease loci in linkage analysis
19. Faster sequential genetic linkage computations
20. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
21. Identification of the proteoglycan versican in aorta and smooth muscle cells by DNA sequence analysis, in situ hybridization and immunohistochemistry
22. Multiple domains of the large fibroblast proteoglycan, versican
23. The thrombospondin-4 gene
24. Thrombospondin-4. An extracellular matrix protein expressed in the developing and adult nervous system promotes neurite outgrowth