Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 33

1.

PSEUDOXANTHOMA ELASTICUM: A CLINICAL AND HISTOPATHOLOGICAL STUDY.

GOODMAN RM, SMITH EW, PATON D, BERGMAN RA, SIEGEL CL, OTTESEN OE, SHELLEY WM, PUSCH AL, MCKUSICK VA.

Medicine (Baltimore). 1963 Sep;42:297-334. Review. No abstract available.

PMID:
14068068
[PubMed - indexed for MEDLINE]
2.

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R.

J Mol Med (Berl). 2000;78(1):36-46.

PMID:
10759028
[PubMed - indexed for MEDLINE]
3.

Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.

Fujita Y, Nakata K, Yasui N, Matsui Y, Kataoka E, Hiroshima K, Shiba RI, Ochi T.

J Clin Endocrinol Metab. 2000 Jan;85(1):425-31.

PMID:
10634420
[PubMed - indexed for MEDLINE]
4.

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;12(12):1112-23.

PMID:
10619263
[PubMed - indexed for MEDLINE]
5.
6.

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD.

Genomics. 1999 Nov 15;62(1):1-10. Erratum in: Genomics 2000 Feb 1;63(3):439.

PMID:
10585762
[PubMed - indexed for MEDLINE]
7.

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, Eady RA, McGrath JA.

J Invest Dermatol. 1999 Oct;113(4):673-86.

PMID:
10504458
[PubMed - indexed for MEDLINE]
Free Article
8.

Multidrug resistance protein MRP1, glutathione, and related enzymes. Their importance in acute myeloid leukemia.

van der Kolk DM, Vellenga E, Müller M, de Vries EG.

Adv Exp Med Biol. 1999;457:187-98. Review.

PMID:
10500793
[PubMed - indexed for MEDLINE]
9.

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.

De La Paz MA, Guy VK, Abou-Donia S, Heinis R, Bracken B, Vance JM, Gilbert JR, Gass JD, Haines JL, Pericak-Vance MA.

Ophthalmology. 1999 Aug;106(8):1531-6.

PMID:
10442900
[PubMed - indexed for MEDLINE]
10.

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.

Belinsky MG, Kruh GD.

Br J Cancer. 1999 Jul;80(9):1342-9.

PMID:
10424734
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.

Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, Adachi Y, Sakisaka S, Kuwano M.

Am J Hum Genet. 1999 Mar;64(3):739-46.

PMID:
10053008
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M.

Am J Hum Genet. 1999 Feb;64(2):422-34.

PMID:
9973280
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

Kool M, van der Linden M, de Haas M, Baas F, Borst P.

Cancer Res. 1999 Jan 1;59(1):175-82.

PMID:
9892204
[PubMed - indexed for MEDLINE]
Free Article
14.

Molecular mechanisms of cutaneous aging: connective tissue alterations in the dermis.

Uitto J, Bernstein EF.

J Investig Dermatol Symp Proc. 1998 Aug;3(1):41-4. Review.

PMID:
9732056
[PubMed - indexed for MEDLINE]
15.

Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.

Ko YH, Pedersen PL.

J Bioenerg Biomembr. 1997 Oct;29(5):417-27. Review.

PMID:
9511927
[PubMed - indexed for MEDLINE]
16.

Function, evolution and structure of multidrug resistance protein (MRP).

Deeley RG, Cole SP.

Semin Cancer Biol. 1997 Jun;8(3):193-204. Review.

PMID:
9441948
[PubMed - indexed for MEDLINE]
17.

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, Kimura A, Sakisaka S, Adachi Y, Kuwano M.

Hum Mol Genet. 1998 Feb;7(2):203-7.

PMID:
9425227
[PubMed - indexed for MEDLINE]
Free Article
18.

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.

Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J.

Hum Mutat. 1997;10(5):408-14.

PMID:
9375858
[PubMed - indexed for MEDLINE]
19.

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K.

Hum Mol Genet. 1997 Oct;6(11):1823-8.

PMID:
9302259
[PubMed - indexed for MEDLINE]
Free Article
20.

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA.

Genome Res. 1997 Aug;7(8):830-4.

PMID:
9267806
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk