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Items: 1 to 20 of 144

1.

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.

2.

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
3.

OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean.

Inagaki K, Suzuki T, Ito S, Suzuki N, Fukai K, Horiuchi T, Tanaka T, Manabe E, Tomita Y.

Pigment Cell Res. 2005 Oct;18(5):385-8.

PMID:
16162179
4.

[A new form of Oculocutaneous albinism, OCA4].

Li HY, Duan HL, Zheng H.

Yi Chuan. 2006 Sep;28(9):1149-52. Review. Chinese.

PMID:
16963427
5.

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
6.

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.

7.

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
8.

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.

Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.

PMID:
13680365
10.

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
11.

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

Suzuki T, Tomita Y.

J Dermatol Sci. 2008 Jul;51(1):1-9. doi: 10.1016/j.jdermsci.2007.12.008. Epub 2008 Apr 14. Review.

PMID:
18407468
12.

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
13.

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Ko JM, Yang JA, Jeong SY, Kim HJ.

Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.

14.

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.

15.

Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?

Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC.

J Hum Genet. 2006;51(8):716-20. Epub 2006 Jul 26.

PMID:
16868655
16.

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

Zhang KH, Li Z, Lei J, Pang T, Xu B, Jiang WY, Li HY.

Cell Biochem Biophys. 2011 Dec;61(3):523-9. doi: 10.1007/s12013-011-9234-0.

PMID:
21739261
18.

Molecular analysis of Korean patients with oculocutaneous albinism.

Park SH, Chae H, Kim Y, Kim M.

Jpn J Ophthalmol. 2012 Jan;56(1):98-103. doi: 10.1007/s10384-011-0098-z. Epub 2011 Nov 1.

PMID:
22042571
19.

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

Wei AH, Yang XM, Lian S, Li W.

Chin Med J (Engl). 2013 Jan;126(2):226-30.

20.

Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.

Inagaki K, Suzuki T, Ito S, Suzuki N, Adachi K, Okuyama T, Nakata Y, Shimizu H, Matsuura H, Oono T, Iwamatsu H, Kono M, Tomita Y.

Pigment Cell Res. 2006 Oct;19(5):451-3.

PMID:
16965274
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