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Journal Abstract Search

216 related items for PubMed ID: 19116367

  • 1. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
    Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW.
    Am J Pathol; 2009 Feb; 174(2):534-40. PubMed ID: 19116367
    [Abstract] [Full Text] [Related]

  • 2. [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
    Gusdorf L, Mitcov M, Maradeix S, Cunat S, Martin L, Cribier B.
    Ann Dermatol Venereol; 2016 Apr; 143(4):279-83. PubMed ID: 26944767
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
    Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J.
    J Invest Dermatol; 2009 Mar; 129(3):553-63. PubMed ID: 18800149
    [Abstract] [Full Text] [Related]

  • 4. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
    Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J.
    Exp Dermatol; 2009 Jan; 18(1):1-11. PubMed ID: 19054062
    [Abstract] [Full Text] [Related]

  • 5. GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.
    Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q.
    Br J Dermatol; 2021 Jun; 184(6):1170-1174. PubMed ID: 33000479
    [Abstract] [Full Text] [Related]

  • 6. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.
    Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A.
    Lab Invest; 2010 Jun; 90(6):895-905. PubMed ID: 20368697
    [Abstract] [Full Text] [Related]

  • 7. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
    Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A.
    J Invest Dermatol; 2007 Mar; 127(3):581-7. PubMed ID: 17110937
    [Abstract] [Full Text] [Related]

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  • 9. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
    Uitto J, Li Q, Jiang Q.
    J Invest Dermatol; 2010 Mar; 130(3):661-70. PubMed ID: 20032990
    [Abstract] [Full Text] [Related]

  • 10. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
    Li Q, Uitto J.
    J Mol Med (Berl); 2010 Feb; 88(2):173-81. PubMed ID: 19784827
    [Abstract] [Full Text] [Related]

  • 11. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
    Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC.
    J Invest Dermatol; 2014 Sep; 134(9):2331-2338. PubMed ID: 24739904
    [Abstract] [Full Text] [Related]

  • 12. Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
    Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.
    J Invest Dermatol; 2015 Apr; 135(4):992-998. PubMed ID: 25264593
    [Abstract] [Full Text] [Related]

  • 13. Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?
    Borst P, van de Wetering K, Schlingemann R.
    Cell Cycle; 2008 Jun 01; 7(11):1575-9. PubMed ID: 18469514
    [Abstract] [Full Text] [Related]

  • 14. Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
    Uitto J, Jiang Q.
    J Invest Dermatol; 2007 Mar 01; 127(3):507-10. PubMed ID: 17299431
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 53(6):692-8. PubMed ID: 23675997
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 83(2):140-7. PubMed ID: 15723264
    [Abstract] [Full Text] [Related]

  • 17. Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
    Li Q, Troutman C, Peckiconis M, Wurst T, Terry SF.
    Front Genet; 2024 Feb 01; 15():1429320. PubMed ID: 39399214
    [Abstract] [Full Text] [Related]

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  • 19. 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 01; 21(3):368-73. PubMed ID: 17309461
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 126(4):782-6. PubMed ID: 16410789
    [Abstract] [Full Text] [Related]

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