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Items: 1 to 20 of 150

1.

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.

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.

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W.

J Invest Dermatol. 2010 Mar;130(3):716-24. doi: 10.1038/jid.2009.339. Epub 2009 Oct 29.

4.

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
5.

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
6.

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
7.

Delineating the genetic heterogeneity of OCA in Hungarian patients.

Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M, Németh R, Vas K, Csoma Z, Kemény L, Széll M, Nagy N.

Eur J Med Res. 2017 Jun 19;22(1):20. doi: 10.1186/s40001-017-0262-0.

8.

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
9.

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Wei AH, Zang DJ, Zhang Z, Yang XM, Li W.

J Genet Genomics. 2015 Jun 20;42(6):279-86. doi: 10.1016/j.jgg.2015.05.001. Epub 2015 May 29.

PMID:
26165494
10.

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR.

Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Review.

11.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B.

Pigment Cell Res. 2006 Jun;19(3):239-42.

PMID:
16704458
12.

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.

13.

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
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.

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.

16.

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B.

Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23.

PMID:
24118800
17.

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L, Manfredini E, Del Longo A, Veniani E, Scarcello M, Terrana R, Radaelli AE, Calò D, Mingoia G, Rossetti A, Marsico G, Mazza M, Gesu GP, Cristina Patrosso M, Penco S, Piozzi E, Primignani P.

J Hum Genet. 2017 Feb;62(2):277-290. doi: 10.1038/jhg.2016.123. Epub 2016 Oct 13.

PMID:
27734839
18.

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.

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.

Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ.

Pigment Cell Res. 2002 Jun;15(3):217-24. Erratum in: Pigment Cell Res. 2002 Oct;15(5):400..

PMID:
12028586

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