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Items: 1 to 20 of 528

1.

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
2.

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
3.

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
4.

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
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.

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.

8.

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
9.

[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
10.

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
11.

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.

12.

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.

PMID:
23324268
13.

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.

14.

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM.

Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar.

15.

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM, Spritz RA.

J Invest Dermatol. 2008 Oct;128(10):2442-50. doi: 10.1038/jid.2008.109. Epub 2008 May 8.

16.

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
17.

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
18.

Mutational analysis of oculocutaneous albinism: a compact review.

Kamaraj B, Purohit R.

Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472. Epub 2014 Jun 29. Review.

19.
20.

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

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