BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 15098239)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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: evaluation of diagnostic criteria based on molecular data.
    Christen-Zäch S; Huber M; Struk B; Lindpaintner K; Munier F; Panizzon RG; Hohl D
    Br J Dermatol; 2006 Jul; 155(1):89-93. PubMed ID: 16792757
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
    Le Saux O; Urban Z; Tschuch C; Csiszar K; Bacchelli B; Quaglino D; Pasquali-Ronchetti I; Pope FM; Richards A; Terry S; Bercovitch L; de Paepe A; Boyd CD
    Nat Genet; 2000 Jun; 25(2):223-7. PubMed ID: 10835642
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
    Bowen AR; Götting C; LeBoit PE; McCalmont TH
    J Cutan Pathol; 2007 Oct; 34(10):777-81. PubMed ID: 17880583
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
    Khan FF; Erfan M; Kanwal N; Naeem M
    Mol Biol Rep; 2019 Feb; 46(1):1363-1368. PubMed ID: 30805891
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.