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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

177 related items for PubMed ID: 12928920

  • 1. Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.
    Morcher M, Hausser I, Brandt T, Grond-Ginsbach C.
    J Neurol; 2003 Aug; 250(8):983-6. PubMed ID: 12928920
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
    Pulkkinen L, Nakano A, Ringpfeil F, Uitto J.
    Hum Genet; 2001 Sep; 109(3):356-65. PubMed ID: 11702217
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 28; 100(3):389-93. PubMed ID: 15837081
    [Abstract] [Full Text] [Related]

  • 10. 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; 28(10):1046. PubMed ID: 17823974
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 11(3):215-24. PubMed ID: 12673275
    [Abstract] [Full Text] [Related]

  • 12. Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum.
    Katona E, Aslanidis C, Remenyik E, Csikós M, Kárpáti S, Paragh G, Schmitz G.
    J Dermatol Sci; 2005 Nov 28; 40(2):115-21. PubMed ID: 16183260
    [Abstract] [Full Text] [Related]

  • 13. 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 Nov 28; 42(5):424-32. PubMed ID: 16127278
    [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 28; 79(9):536-46. PubMed ID: 11692167
    [Abstract] [Full Text] [Related]

  • 15. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
    Bergen AA, Plomp AS, Gorgels TG, de Jong PT.
    Ned Tijdschr Geneeskd; 2004 Aug 07; 148(32):1586-9. PubMed ID: 15382558
    [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 07; 34(10):777-81. PubMed ID: 17880583
    [Abstract] [Full Text] [Related]

  • 17. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR.
    Invest Ophthalmol Vis Sci; 2007 Sep 07; 48(9):4250-6. PubMed ID: 17724214
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 83(2):140-7. PubMed ID: 15723264
    [Abstract] [Full Text] [Related]

  • 19. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).
    Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, Le Saux O, Boyd CD, Ronchetti IP.
    Mod Pathol; 1999 Dec 07; 12(12):1112-23. PubMed ID: 10619263
    [Abstract] [Full Text] [Related]

  • 20. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
    Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A.
    Hum Mutat; 2008 Jan 07; 29(1):205. PubMed ID: 18157818
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.