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Items: 1 to 20 of 326

1.

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B.

Hum Mutat. 2004 Feb;23(2):106-10.

PMID:
14722913
2.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386
3.

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
4.

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH.

Am J Hum Genet. 2001 Nov;69(5):981-8. Epub 2001 Sep 26.

6.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.

Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.

PMID:
24096233
7.

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y.

Am J Hum Genet. 2004 Mar;74(3):466-71. Epub 2004 Feb 11.

8.

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oetting WS, Garrett SS, Brott M, King RA.

Hum Mutat. 2005 Mar;25(3):323.

PMID:
15712365
9.

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.

10.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5.

PMID:
19060277
11.

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA.

Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791.

PMID:
18326704
12.

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.

Mol Vis. 2010 Aug 9;16:1514-24.

13.
14.

Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.

Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, Ray K.

Br J Dermatol. 2010 Sep;163(3):487-94. doi: 10.1111/j.1365-2133.2010.09830.x. Epub 2010 Apr 26.

PMID:
20426782
15.

Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.

Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, Brilliant MH.

Hum Mutat. 1998;12(6):434.

PMID:
10671067
16.

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.

Am J Hum Genet. 1997 Nov;61(5):1095-101.

17.

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M.

J Dermatol Sci. 2003 May;31(3):189-92.

PMID:
12727022
18.

Electron microscopic DOPA reaction test for oculocutaneous albinism.

Takizawa Y, Kato S, Matsunaga J, Aozaki R, Tomita Y, Nishikawa T, Shimizu H.

Arch Dermatol Res. 2000 Jun;292(6):301-5.

PMID:
10929771
19.

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M.

Hum Mutat. 2001 Apr;17(4):352.

PMID:
11295837

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