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Items: 1 to 20 of 95

1.

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
2.

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.

3.

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y.

Br J Dermatol. 2005 Jan;152(1):174-5. No abstract available.

PMID:
15656822
4.

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
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.

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

Chan AY, Liu DT.

Br J Dermatol. 2005 Nov;153(5):1072; author reply 1073. No abstract available.

PMID:
16225631
7.

[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
8.

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
9.

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
10.

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.

11.

A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH.

Am J Hum Genet. 2003 Jan;72(1):62-72. Epub 2002 Dec 5.

12.

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
13.

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J.

Clin Exp Dermatol. 2015 Oct;40(7):774-80. doi: 10.1111/ced.12612. Epub 2015 Feb 22.

PMID:
25703744
14.

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.

15.

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
16.

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
17.
18.

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
19.

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612.

PMID:
28192564
20.

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