Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 105

1.

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. doi: 10.1111/ijd.12008. Epub 2013 May 15.

PMID:
23675997
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
17309461
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
12714611
[PubMed - indexed for MEDLINE]
Free Article
4.

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. Epub 2004 Nov 10.

PMID:
15723264
[PubMed - indexed for MEDLINE]
5.

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. doi: 10.1001/archderm.144.3.301.

PMID:
18347285
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
12673275
[PubMed - indexed for MEDLINE]
Free Article
7.

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

Bergen AA, Plomp AS, Gorgels TG, de Jong PT.

Ned Tijdschr Geneeskd. 2004 Aug 7;148(32):1586-9. Review. Dutch.

PMID:
15382558
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
16835894
[PubMed - indexed for MEDLINE]
9.

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.

Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K.

Hum Biol. 2005 Jun;77(3):367-84.

PMID:
16392638
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
15837081
[PubMed - indexed for MEDLINE]
11.

Does autosomal dominant pseudoxanthoma elasticum exist?

Plomp AS, Hu X, de Jong PT, Bergen AA.

Am J Med Genet A. 2004 May 1;126A(4):403-12. Review.

PMID:
15098239
[PubMed - indexed for MEDLINE]
12.

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. Epub 2007 Jul 6.

PMID:
17617515
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. doi: 10.1038/jid.2008.271. Epub 2008 Sep 18.

PMID:
18800149
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
16410789
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
11692167
[PubMed - indexed for MEDLINE]
16.

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. doi: 10.2353/ajpath.2009.080865. Epub 2008 Dec 30.

PMID:
19116367
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
11439001
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
17880583
[PubMed - indexed for MEDLINE]
19.

Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.

Hendig D, Schulz V, Arndt M, Szliska C, Kleesiek K, Götting C.

Clin Chem. 2006 Feb;52(2):227-34. Epub 2005 Dec 29.

PMID:
16384891
[PubMed - indexed for MEDLINE]
Free Article
20.

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. doi: 10.1016/j.jdermsci.2009.02.008. Epub 2009 Mar 31.

PMID:
19339160
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk