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Results: 1 to 20 of 38

1.

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1).

Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, Aryani O, Tondar M, Ahmadipour F, Chung LY, Houshmand M.

PLoS One. 2014 Sep 12;9(9):e106656. doi: 10.1371/journal.pone.0106656. eCollection 2014.

PMID:
25216246
[PubMed - as supplied by publisher]
2.

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

Lin YY, Wei AH, He X, Zhou ZY, Lian S, Zhu W.

Eur J Dermatol. 2014 Mar-Apr;24(2):168-73. doi: 10.1684/ejd.2014.2304.

PMID:
24721949
[PubMed - in process]
3.

Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism.

van Rijn GA, Snoek C, Joosse M, Saxena R, Luyten GP.

J Cataract Refract Surg. 2013 Oct;39(10):1604-8. doi: 10.1016/j.jcrs.2013.08.008.

PMID:
24075162
[PubMed - indexed for MEDLINE]
4.

Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.

Rodríguez-Agramonte F, Izquierdo NJ, Cadilla C.

Bol Asoc Med P R. 2013;105(2):62-4.

PMID:
23882993
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

Reissmann M, Ludwig A.

Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):576-86. doi: 10.1016/j.semcdb.2013.03.014. Epub 2013 Apr 9.

PMID:
23583561
[PubMed - in process]
6.

[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

Sanabria D, Groot H, Guzmán J, Lattig MC.

Biomedica. 2012 Jun;32(2):269-76. doi: 10.1590/S0120-41572012000300015. Spanish.

PMID:
23242301
[PubMed - indexed for MEDLINE]
Free Article
7.

DeoxyArbutin and its derivatives inhibit tyrosinase activity and melanin synthesis without inducing reactive oxygen species or apoptosis.

Chawla S, Kvalnes K, deLong MA, Wickett R, Manga P, Boissy RE.

J Drugs Dermatol. 2012 Oct;11(10):e28-34.

PMID:
23134995
[PubMed - indexed for MEDLINE]
8.

Mutational analysis of TYR gene and its structural consequences in OCA1A.

K B, Purohit R.

Gene. 2013 Jan 15;513(1):184-95. doi: 10.1016/j.gene.2012.09.128. Epub 2012 Oct 22.

PMID:
23085273
[PubMed - indexed for MEDLINE]
9.

[Optical coherence tomography in patients with foveal hypoplasia and high visual acuity].

Shpak AA, Aznaurian IÉ, Balasanian VO, Tavtilova DA.

Vestn Oftalmol. 2012 Jul-Aug;128(4):66-9. Russian.

PMID:
22994112
[PubMed - indexed for MEDLINE]
10.

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

Wu Q, Shi HR, Liu N, Lu N, Jiang M, Zhao ZH, Kong XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):377-81. doi: 10.3760/cma.j.issn.1003-9406.2012.04.001. Chinese.

PMID:
22875490
[PubMed - indexed for MEDLINE]
11.

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T.

Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9.

PMID:
22486324
[PubMed - indexed for MEDLINE]
12.

[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]
13.

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S.

Chin Med J (Engl). 2011 Oct;124(20):3358-61.

PMID:
22088535
[PubMed - indexed for MEDLINE]
Free Article
14.

Reading skills in children and adults with albinism: the role of visual impairment.

MacDonald JT, Kutzbach BR, Holleschau AM, Wyckoff S, Summers CG.

J Pediatr Ophthalmol Strabismus. 2012 May-Jun;49(3):184-8. doi: 10.3928/01913913-20111101-03. Epub 2011 Nov 8.

PMID:
22074358
[PubMed - indexed for MEDLINE]
15.

Change in visual acuity in albinism in the early school years.

Dijkstal JM, Cooley SS, Holleschau AM, King RA, Summers CG.

J Pediatr Ophthalmol Strabismus. 2012 Mar-Apr;49(2):81-6; quiz 87. doi: 10.3928/01913913-20110628-02. Epub 2011 Jul 6.

PMID:
21732575
[PubMed - indexed for MEDLINE]
16.

Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

Chaki M, Sengupta M, Mondal M, Bhattacharya A, Mallick S, Bhadra R; Indian Genome Variation Consortium, Ray K.

J Invest Dermatol. 2011 Jan;131(1):260-2. doi: 10.1038/jid.2010.274. Epub 2010 Sep 23. No abstract available.

PMID:
20861851
[PubMed - indexed for MEDLINE]
Free Article
17.

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]
18.

Oculocutaneous Albinism Type 1.

Lewis RA.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2000 Jan 19 [updated 2013 May 16].

PMID:
20301345
[PubMed]
Books & Documents
19.

Nevoid malignant melanoma in an albino woman.

Binesh F, Akhavan A, Navabii H.

BMJ Case Rep. 2010 Dec 6;2010. pii: bcr0820103262. doi: 10.1136/bcr.08.2010.3262.

PMID:
22802236
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Malignant amelanotic melanoma developing from an intradermal naevus in a patient with oculocutaneous albinism.

Wu CY, Gao HW, Chiang CP.

Clin Exp Dermatol. 2009 Dec;34(8):e590-3. doi: 10.1111/j.1365-2230.2009.03261.x. Epub 2009 May 22.

PMID:
19486065
[PubMed - indexed for MEDLINE]

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