Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 184

1.

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD.

Nature. 1993 Jan 7;361(6407):72-6.

PMID:
8421497
2.

The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.

Brilliant MH, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM, Durham-Pierre D, Nakatsu Y.

Pigment Cell Res. 1994 Dec;7(6):398-402.

PMID:
7761348
3.

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA.

N Engl J Med. 1994 Feb 24;330(8):529-34.

4.

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH.

Science. 1992 Aug 21;257(5073):1121-4.

PMID:
1509264
5.

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.

Hum Mutat. 2000;15(2):166-72. Erratum in: Hum Mutat 2000;16(1):following 86.

PMID:
10649493
6.

The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M.

Am J Hum Genet. 1994 Jun;54(6):1078-84. Erratum in: Am J Hum Genet 1994 Sep;55(3):602.

7.
8.

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

Nicholls RD, Gottlieb W, Russell LB, Davda M, Horsthemke B, Rinchik EM.

Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):2050-4.

9.

Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.

Brilliant MH, Gondo Y.

Pigment Cell Res. 1992 Nov;5(5 Pt 2):271-3.

PMID:
1292008
10.

Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.

Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ.

Proc Natl Acad Sci U S A. 1994 Dec 6;91(25):12071-75.

11.

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB.

Hum Genet. 1995 Oct;96(4):485-9.

PMID:
7557977
12.

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.

Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M.

Am J Hum Genet. 2001 Mar;68(3):782-7. Epub 2001 Feb 9.

13.

Organization and sequence of the human P gene and identification of a new family of transport proteins.

Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA.

Genomics. 1995 Mar 20;26(2):354-63.

PMID:
7601462
14.

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP.

Am J Med Genet A. 2003 Jun 1;119A(2):180-3.

PMID:
12749060
16.

Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes.

Potterf SB, Furumura M, Sviderskaya EV, Santis C, Bennett DC, Hearing VJ.

Exp Cell Res. 1998 Oct 10;244(1):319-26.

PMID:
9770375
17.
18.

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG.

Am J Med Genet. 1997 Jul 11;71(1):57-62.

PMID:
9215770
19.
20.

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.

Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T.

Am J Hum Genet. 1992 Oct;51(4):879-84.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk