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Journal Abstract Search

495 related items for PubMed ID: 17309461

  • 21. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
    Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A.
    J Med Genet; 2005 Dec; 42(12):881-92. PubMed ID: 15894595
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  • 22. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.
    Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T.
    Eye (Lond); 2005 Feb; 19(2):215-7. PubMed ID: 15184964
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  • 25. 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
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  • 26. 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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  • 30. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
    Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J.
    J Intern Med; 2021 May; 289(5):709-725. PubMed ID: 33107650
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  • 31. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
    Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H.
    Intern Med; 2004 Dec; 43(12):1171-6. PubMed ID: 15645653
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  • 32. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
    Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A.
    Hum Mutat; 2008 Jan; 29(1):205. PubMed ID: 18157818
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  • 33. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
    Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A.
    Hum Mutat; 2001 Jan; 18(1):85. PubMed ID: 11439001
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  • 35. Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms.
    Ratajewski M, de Boussac H, Pulaski L.
    Biochem Biophys Res Commun; 2009 May 22; 383(1):73-7. PubMed ID: 19341707
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  • 37. Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
    Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K.
    Hum Biol; 2005 Jun 22; 77(3):367-84. PubMed ID: 16392638
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  • 39. Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum.
    Zarbock R, Hendig D, Szliska C, Kleesiek K, Götting C.
    Clin Chim Acta; 2010 Oct 09; 411(19-20):1487-90. PubMed ID: 20541540
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  • 40. Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
    Kieć-Wilk B, Surdacki A, Dembińska-Kieć A, Michalowska J, Stachura-Dereń M, Dubiel JS, Dudek D, Rakowski T, Szastak G, Bodzioch M, Aslanidis C, Schmitz G.
    Int J Cardiol; 2007 Mar 20; 116(2):261-2. PubMed ID: 16854481
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