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Journal Abstract Search

149 related items for PubMed ID: 18029147

  • 21. 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; 48(9):4250-6. PubMed ID: 17724214
    [Abstract] [Full Text] [Related]

  • 22. ABCC6 gene polymorphism associated with variation in plasma lipoproteins.
    Wang J, Near S, Young K, Connelly PW, Hegele RA.
    J Hum Genet; 2001 Sep; 46(12):699-705. PubMed ID: 11776382
    [Abstract] [Full Text] [Related]

  • 23. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
    Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J.
    J Invest Dermatol; 2006 Apr; 126(4):782-6. PubMed ID: 16410789
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  • 24. 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; 122(3):608-13. PubMed ID: 15086542
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  • 26. 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
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  • 28. Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
    Li Q, Sadowski S, Uitto J.
    J Invest Dermatol; 2011 Mar; 131(3):782-5. PubMed ID: 21179111
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  • 30. Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients.
    Götting C, Adam A, Szliska C, Kleesiek K.
    Clin Biochem; 2008 Apr; 41(6):368-74. PubMed ID: 18191640
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  • 31. Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
    Plomp AS, Bergen AA, Florijn RJ, Terry SF, Toonstra J, van Dijk MR, de Jong PT.
    Genet Med; 2009 Dec; 11(12):852-8. PubMed ID: 19904211
    [Abstract] [Full Text] [Related]

  • 32. Genetics. Patient advocate named co-inventor on patent for the PXE disease gene.
    Marshall E.
    Science; 2004 Aug 27; 305(5688):1226. PubMed ID: 15333813
    [No Abstract] [Full Text] [Related]

  • 33. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
    Bowen AR, Götting C, LeBoit PE, McCalmont TH.
    J Cutan Pathol; 2007 Oct 27; 34(10):777-81. PubMed ID: 17880583
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  • 35. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
    Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA.
    Surv Ophthalmol; 2003 Oct 27; 48(4):424-38. PubMed ID: 12850230
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  • 36. [Pseudoxanthoma elasticum with cutis laxa and multiple coagulation factor deficiency: a single genetic entity].
    Dereure O.
    Ann Dermatol Venereol; 2008 Feb 27; 135(2):162-3. PubMed ID: 18342106
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  • 38. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
    Ringpfeil F, Nakano A, Uitto J, Pulkkinen L.
    Am J Hum Genet; 2001 Mar 27; 68(3):642-52. PubMed ID: 11179012
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  • 40. Classic pseudoxanthoma elasticum in a patient with sickle cell disease.
    van Meurs T, van Hagen JM, van de Scheur MR, Vermaat H, Ruijs MW, van den Hoogenband HM, Starink TM.
    J Am Acad Dermatol; 2007 Jan 27; 56(1):170-1. PubMed ID: 17190641
    [No Abstract] [Full Text] [Related]

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