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Journal Abstract Search

387 related items for PubMed ID: 16854481

  • 21. Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
    Morcher M, Hausser I, Brandt T, Grond-Ginsbach C.
    J Neurol; 2003 Aug; 250(8):983-6. PubMed ID: 12928920
    [Abstract] [Full Text] [Related]

  • 22. Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6.
    Fülöp K, Barna L, Symmons O, Závodszky P, Váradi A.
    Biochem Biophys Res Commun; 2009 Feb 13; 379(3):706-9. PubMed ID: 19133228
    [Abstract] [Full Text] [Related]

  • 23. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
    Hu X, Peek R, Plomp A, ten Brink Jt, Scheffer G, van Soest S, Leys A, de Jong PT, Bergen AA.
    Invest Ophthalmol Vis Sci; 2003 May 13; 44(5):1824-9. PubMed ID: 12714611
    [Abstract] [Full Text] [Related]

  • 24. Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.
    Pisciotta L, Tarugi P, Borrini C, Bellocchio A, Fresa R, Guerra D, Quaglino D, Ronchetti I, Calandra S, Bertolini S.
    Atherosclerosis; 2010 May 13; 210(1):173-6. PubMed ID: 20018285
    [Abstract] [Full Text] [Related]

  • 25. 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 13; 56(1):170-1. PubMed ID: 17190641
    [No Abstract] [Full Text] [Related]

  • 26. Calcification of the placenta in a woman with pseudoxanthoma elasticum with a mutation of the ABCC6 gene.
    Tanioka M, Utani A, Tamura H, Yoshimura N, Kashiwagi N, Kondo E, Konishi I, Miyachi Y.
    J Dermatol; 2014 Feb 13; 41(2):189-91. PubMed ID: 24387186
    [No Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. 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 May 22; 42(5):424-32. PubMed ID: 16127278
    [Abstract] [Full Text] [Related]

  • 29. 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 22; 29(1):205. PubMed ID: 18157818
    [Abstract] [Full Text] [Related]

  • 30. 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 22; 122(3):608-13. PubMed ID: 15086542
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  • 33. Pseudoxanthoma elasticum and nephrolithiasis.
    Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N.
    J Eur Acad Dermatol Venereol; 2005 Mar 22; 19(2):212-5. PubMed ID: 15752294
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
    Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG.
    J Med Genet; 2007 Oct 13; 44(10):621-8. PubMed ID: 17617515
    [Abstract] [Full Text] [Related]

  • 36. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
    Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J.
    J Invest Dermatol; 2009 Mar 13; 129(3):553-63. PubMed ID: 18800149
    [Abstract] [Full Text] [Related]

  • 37. Classic pseudoxanthoma elasticum in a girl with sickle cell disease.
    Mitre V, Brown D, Phung T, Hunt RD.
    Pediatr Dermatol; 2019 Jan 13; 36(1):e64-e65. PubMed ID: 30537162
    [Abstract] [Full Text] [Related]

  • 38. 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 13; 43(12):1171-6. PubMed ID: 15645653
    [Abstract] [Full Text] [Related]

  • 39. 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 Dec 13; 48(4):424-38. PubMed ID: 12850230
    [Abstract] [Full Text] [Related]

  • 40. 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 13; 126(4):782-6. PubMed ID: 16410789
    [Abstract] [Full Text] [Related]

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