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Items: 1 to 20 of 121

1.

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA.

J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.

2.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium.

BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.

3.

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
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.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W.

J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.

6.

Next-generation diagnostics for inherited skin disorders.

Lai-Cheong JE, McGrath JA.

J Invest Dermatol. 2011 Oct;131(10):1971-3. doi: 10.1038/jid.2011.253.

7.

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.

Tóth L, Fábos B, Farkas K, Sulák A, Tripolszki K, Széll M, Nagy N.

BMC Med Genet. 2017 Mar 15;18(1):27. doi: 10.1186/s12881-017-0386-7.

8.

Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.

Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.

Am J Med Genet A. 2009 Aug;149A(8):1773-6. doi: 10.1002/ajmg.a.32964.

PMID:
19610114
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.

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
12.

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
13.

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
14.

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ.

Am J Hum Genet. 1996 Jun;58(6):1145-56.

15.

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.

16.

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
17.

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
18.

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.

19.

[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].

Xu B, Pang T, Yao CQ, Zhang LY, Zheng H, Jiang WY, Li HY.

Zhonghua Yi Xue Za Zhi. 2012 Jan 31;92(4):254-8. Chinese.

PMID:
22490798
20.

In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.

Kamaraj B, Gopalakrishnan C, Purohit R.

Cell Biochem Biophys. 2014 Dec;70(3):1923-32. doi: 10.1007/s12013-014-0152-9.

PMID:
25060099

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