BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

340 related articles for article (PubMed ID: 15086542)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 27(8):831. PubMed ID: 16835894
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 26(3):235-48. PubMed ID: 16086317
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 44(10):621-8. PubMed ID: 17617515
    [TBL] [Abstract][Full Text] [Related]  

  • 5. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
    Hendig D; Schulz V; Eichgrün J; Szliska C; Götting C; Kleesiek K
    J Mol Med (Berl); 2005 Feb; 83(2):140-7. PubMed ID: 15723264
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
    Gheduzzi D; Guidetti R; Anzivino C; Tarugi P; Di Leo E; Quaglino D; Ronchetti IP
    Hum Mutat; 2004 Nov; 24(5):438-9. PubMed ID: 15459974
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
    Bergen AA; Plomp AS; Gorgels TG; de Jong PT
    Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 77(3):367-84. PubMed ID: 16392638
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 54(3):198-204. PubMed ID: 19339160
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.
    Chassaing N; Martin L; Bourthoumieu S; Calvas P; Hovnanian A
    Hum Mutat; 2007 Oct; 28(10):1046. PubMed ID: 17823974
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
    Hu X; Plomp A; Wijnholds J; Ten Brink J; van Soest S; van den Born LI; Leys A; Peek R; de Jong PT; Bergen AA
    Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
    Cai L; Lumsden A; Guenther UP; Neldner SA; Zäch S; Knoblauch H; Ramesar R; Hohl D; Callen DF; Neldner KH; Lindpaintner K; Richards RI; Struk B
    J Mol Med (Berl); 2001 Sep; 79(9):536-46. PubMed ID: 11692167
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 42(5):424-32. PubMed ID: 16127278
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
    Jin L; Jiang Q; Wu Z; Shao C; Zhou Y; Yang L; Uitto J; Wang G
    J Invest Dermatol; 2015 May; 135(5):1294-1302. PubMed ID: 25615550
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 100(3):389-93. PubMed ID: 15837081
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 44(5):1824-9. PubMed ID: 12714611
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
    Hu X; Plomp A; Gorgels T; Brink JT; Loves W; Mannens M; de Jong PT; Bergen AA
    Genet Test; 2004; 8(3):292-300. PubMed ID: 15727254
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 84(1):122-30. PubMed ID: 14631379
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.