These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

341 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 18.