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Items: 1 to 20 of 117

1.

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L, Florell SR, Leachman SA.

J Dermatol Sci. 2013 Jan;69(1):30-7. doi: 10.1016/j.jdermsci.2012.09.016. Epub 2012 Oct 13.

2.

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.

PLoS One. 2015 Apr 28;10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015.

3.

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P.

Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18.

PMID:
24361966
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.

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.

7.

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Preising MN, Forster H, Tan H, Lorenz B, de Jong PT, Plomp AS.

Mol Vis. 2007 Oct 2;13:1851-5.

PMID:
17960121
8.

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

Hongyi L, Haiyun W, Hui Z, Qing W, Honglei D, Shu M, Weiying J.

Prenat Diagn. 2007 Jun;27(6):502-6.

PMID:
17385796
9.

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

Johanson HC, Chen W, Wicking C, Sturm RA.

J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.

PMID:
20019752
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.

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
12.

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.

Ibarrola-Villava M, Fernandez LP, Pita G, Bravo J, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G.

Exp Dermatol. 2010 Sep;19(9):836-44. doi: 10.1111/j.1600-0625.2010.01115.x. Epub 2010 Jul 14.

PMID:
20629734
13.

Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.

Urtatiz O, Sanabria D, Lattig MC.

J Dermatol Sci. 2014 Dec;76(3):260-2. doi: 10.1016/j.jdermsci.2014.09.011. Epub 2014 Oct 22. No abstract available.

PMID:
25455140
14.

[A novel P gene mutation in a Chinese family with oculocutaneous albinism].

Duan HL, Li HY, Wu WQ, Zheng H, Chen Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):614-7. Chinese.

PMID:
17160937
15.

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
16.

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Iqbal F, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM.

Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44.

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.

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
19.

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
20.

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].

Li HY, Wei HY, Zheng H, Meng S, Jiang WY, Chen LM, Duan HL.

Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1123-5. Chinese.

PMID:
17672996

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