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Results: 1 to 20 of 101

1.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B.

J Invest Dermatol. 2014 Feb;134(2):568-71. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. No abstract available.

PMID:
23985994
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23364476
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
20806075
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].

Zheng H, Huang ZG, Wen RQ, Li HY.

Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2011 Aug;27(3):329-32. Chinese.

PMID:
22097729
[PubMed - indexed for MEDLINE]
8.

[Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families].

Aquaron R, Berge-Lefranc JL, Badens C, Roche J, Fite A, Sainte-Marie D, Piquion N, Cartault F.

Med Trop (Mars). 2005 Nov;65(6):584-91. French.

PMID:
16555521
[PubMed - indexed for MEDLINE]
9.

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM.

Clin Genet. 2013 Jul;84(1):91-3. doi: 10.1111/cge.12019. Epub 2012 Oct 10. No abstract available.

PMID:
23050561
[PubMed - indexed for MEDLINE]
10.

[Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].

Vidal-Ríos P, Fernández-Seara MJ, Cortés E, Hurtado L, Couce ML.

An Pediatr (Barc). 2013 May;78(5):339-40. doi: 10.1016/j.anpedi.2012.09.006. Epub 2012 Oct 22. Spanish. No abstract available.

PMID:
23085315
[PubMed - indexed for MEDLINE]
Free Article
11.

Molecular basis of oculocutaneous albinism.

Oetting WS, King RA.

J Invest Dermatol. 1994 Nov;103(5 Suppl):131S-136S. Review.

PMID:
7963676
[PubMed - indexed for MEDLINE]
12.

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A, Yang X, Lian S, Li W.

J Dermatol Sci. 2011 May;62(2):124-7. doi: 10.1016/j.jdermsci.2011.02.009. Epub 2011 Mar 5.

PMID:
21458243
[PubMed - indexed for MEDLINE]
13.

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.

Hum Mutat. 1997;10(2):171-4. No abstract available.

PMID:
9259202
[PubMed - indexed for MEDLINE]
14.

Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.

Liu J, Choy KW, Chan LW, Leung TY, Tam PO, Chiang SW, Lam DS, Pang CP, Lai TY.

Clin Experiment Ophthalmol. 2010 Jan;38(1):37-42. doi: 10.1111/j.1442-9071.2009.02220.x.

PMID:
20447099
[PubMed - indexed for MEDLINE]
15.

Oculocutaneous albinism.

Biswas S, Lloyd IC.

Arch Dis Child. 1999 Jun;80(6):565-9. Review. No abstract available.

PMID:
10332009
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
22734612
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG.

Hum Mutat. 1997;10(2):175-7. No abstract available.

PMID:
9259203
[PubMed - indexed for MEDLINE]
18.

Four novel mutations of TYR gene in Chinese OCA1 patients.

Wang Y, Guo X, Li W, Lian S.

J Dermatol Sci. 2009 Jan;53(1):80-1. doi: 10.1016/j.jdermsci.2008.07.002. Epub 2008 Aug 12. No abstract available.

PMID:
18701257
[PubMed - indexed for MEDLINE]
19.

[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].

Duan HL, Zheng H, Li HY.

Yi Chuan. 2005 Nov;27(6):984-8. Review. Chinese.

PMID:
16378950
[PubMed - indexed for MEDLINE]
20.

[Albinism].

Souied E, Cohen SY, Soubrane G, Coscas G.

J Fr Ophtalmol. 1994;17(11):692-705. Review. French. No abstract available.

PMID:
7722231
[PubMed - indexed for MEDLINE]

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