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 *

134 related articles for article (PubMed ID: 19904211)

  • 1. Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
    Plomp AS; Bergen AA; Florijn RJ; Terry SF; Toonstra J; van Dijk MR; de Jong PT
    Genet Med; 2009 Dec; 11(12):852-8. PubMed ID: 19904211
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 48(4):424-38. PubMed ID: 12850230
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [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]  

  • 6. The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort.
    Kranenburg G; Baas AF; de Jong PA; Asselbergs FW; Visseren FLJ; Spiering W;
    Eur J Med Genet; 2019 Feb; 62(2):90-92. PubMed ID: 29800625
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
    Plomp AS; Florijn RJ; Ten Brink J; Castle B; Kingston H; Martín-Santiago A; Gorgels TG; de Jong PT; Bergen AA
    Mol Vis; 2008 Jan; 14():118-24. PubMed ID: 18253096
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
    Moitra K; Garcia S; Jaldin M; Etoundi C; Cooper D; Roland A; Dixon P; Reyes S; Turan S; Terry S; Dean M
    Int J Mol Sci; 2017 Jul; 18(7):. PubMed ID: 28696355
    [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. 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]  

    [Next]    [New Search]
    of 7.