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124 related items for PubMed ID: 21831958
1. Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Hornstrup LS, Tybjærg-Hansen A, Haase CL, Nordestgaard BG, Sillesen H, Grande P, Frikke-Schmidt R. Circ Cardiovasc Genet; 2011 Oct; 4(5):534-41. PubMed ID: 21831958 [Abstract] [Full Text] [Related]
2. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, Kastelein JJ, Smulders YM. Int J Cardiol; 2005 Apr 28; 100(3):389-93. PubMed ID: 15837081 [Abstract] [Full Text] [Related]
3. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Götting C. Hum Mutat; 2006 Aug 28; 27(8):831. PubMed ID: 16835894 [Abstract] [Full Text] [Related]
4. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]. Bergen AA, Plomp AS, Gorgels TG, de Jong PT. Ned Tijdschr Geneeskd; 2004 Aug 07; 148(32):1586-9. PubMed ID: 15382558 [Abstract] [Full Text] [Related]
9. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA. Circulation; 2002 Aug 13; 106(7):773-5. PubMed ID: 12176944 [Abstract] [Full Text] [Related]
10. Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. Götting C, Schulz V, Hendig D, Grundt A, Dreier J, Szliska C, Brinkmann T, Kleesiek K. Lab Invest; 2004 Jan 13; 84(1):122-30. PubMed ID: 14631379 [Abstract] [Full Text] [Related]
12. Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum. Schulz V, Hendig D, Schillinger M, Exner M, Domanovits H, Raith M, Szliska C, Kleesiek K, Gotting C. J Vasc Res; 2005 Jan 13; 42(5):424-32. PubMed ID: 16127278 [Abstract] [Full Text] [Related]
14. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. Ramsay M, Greenberg T, Lombard Z, Labrum R, Lubbe S, Aron S, Marais AS, Terry S, Bercovitch L, Viljoen D. J Dermatol Sci; 2009 Jun 13; 54(3):198-204. PubMed ID: 19339160 [Abstract] [Full Text] [Related]
15. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zäch S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B. Hum Mutat; 2005 Sep 13; 26(3):235-48. PubMed ID: 16086317 [Abstract] [Full Text] [Related]
16. Prothrombin and risk of venous thromboembolism, ischemic heart disease and ischemic cerebrovascular disease in the general population. Weischer M, Juul K, Zacho J, Jensen GB, Steffensen R, Schroeder TV, Tybjaerg-Hansen A, Nordestgaard BG. Atherosclerosis; 2010 Feb 13; 208(2):480-3. PubMed ID: 19524925 [Abstract] [Full Text] [Related]
18. Novel ABCC6 mutations in pseudoxanthoma elasticum. Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. J Invest Dermatol; 2004 Mar 13; 122(3):608-13. PubMed ID: 15086542 [Abstract] [Full Text] [Related]
19. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Invest Ophthalmol Vis Sci; 2007 Sep 13; 48(9):4250-6. PubMed ID: 17724214 [Abstract] [Full Text] [Related]
20. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Int J Dermatol; 2014 Jun 13; 53(6):692-8. PubMed ID: 23675997 [Abstract] [Full Text] [Related] Page: [Next] [New Search]