BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

280 related articles for article (PubMed ID: 16410789)

  • 1. 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]  

  • 2. [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]  

  • 3. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
    Martin L; Chassaing N; Delaite D; Estève E; Maître F; Le Bert M
    J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Does autosomal dominant pseudoxanthoma elasticum exist?
    Plomp AS; Hu X; de Jong PT; Bergen AA
    Am J Med Genet A; 2004 May; 126A(4):403-12. PubMed ID: 15098239
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. [Pseudodominant inheritance of pseudoxanthoma elasticum].
    Charbel Issa P; Gliem M; Holz FG; Knabbe C; Hendig D
    Ophthalmologe; 2015 Aug; 112(8):686-90. PubMed ID: 25735631
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
    Martin L; Maître F; Bonicel P; Daudon P; Verny C; Bonneau D; Le Saux O; Chassaing N
    Arch Dermatol; 2008 Mar; 144(3):301-6. PubMed ID: 18347285
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
    Uitto J; Jiang Q
    J Invest Dermatol; 2007 Mar; 127(3):507-10. PubMed ID: 17299431
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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; 18(1):85. PubMed ID: 11439001
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutations in ABCC6 cause pseudoxanthoma elasticum.
    Bergen AA; Plomp AS; Schuurman EJ; Terry S; Breuning M; Dauwerse H; Swart J; Kool M; van Soest S; Baas F; ten Brink JB; de Jong PT
    Nat Genet; 2000 Jun; 25(2):228-31. PubMed ID: 10835643
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
    Akoglu G; Li Q; Gokoz O; Gazyagci AS; Uitto J
    Int J Dermatol; 2014 Jun; 53(6):692-8. PubMed ID: 23675997
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.