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Items: 1 to 20 of 132

1.

[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
2.

[Prenatal gene diagnosis of oculocutaneous albinism type I].

Li HY, Wu WI, Zheng H, Duan HL, Chen Z, Chen LM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):280-2. Chinese.

PMID:
16767664
3.

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Hu H, Wang H, Jia Z, Xie Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Aug;31(4):424-7. doi: 10.3760/cma.j.issn.1003-9406.2014.04.003. Chinese.

PMID:
25119903
4.

[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
5.
6.

DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).

Lee ST, Park SK, Lee H, Lee JS, Park YW.

Jpn J Hum Genet. 1997 Dec;42(4):499-505.

PMID:
9560949
7.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Rosenmann A, Bejarano-Achache I, Eli D, Maftsir G, Mizrahi-Meissonnier L, Blumenfeld A.

Prenat Diagn. 2009 Oct;29(10):939-46. doi: 10.1002/pd.2317.

PMID:
19626598
8.

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.

9.

Tyrosinase gene mutations in the Chinese Han population with OCA1.

Liu N, Kong XD, Shi HR, Wu QH, Jiang M.

Genet Res (Camb). 2014 Nov 12;96:e14. doi: 10.1017/S0016672314000160.

PMID:
25577957
10.

Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.

Sundaresan P, Sil AK, Philp AR, Randolph MA, Natchiar G, Namperumalsamy P.

Mol Vis. 2004 Dec 27;10:1005-10.

11.

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

Goto M, Sato-Matsumura KC, Sawamura D, Yokota K, Nakamura H, Shimizu H.

J Dermatol Sci. 2004 Sep;35(3):215-20.

PMID:
15381243
12.

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.

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.

14.

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
15.

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.

Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST.

Mol Cells. 1997 Apr 30;7(2):187-91.

16.

[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

Zhang L, Xu B, Zhong Y, Chen X, Zheng H, Jiang W, Li H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):318-21. doi: 10.3760/cma.j.issn.1003-9406.2013.03.015. Chinese.

PMID:
23744323
17.

Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.

Park KC, Park SK, Lee YS, Youn SW, Park BS, Kim KH, Lee ST.

Jpn J Hum Genet. 1996 Sep;41(3):299-305.

PMID:
8996965
18.

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A).

Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA.

Prenat Diagn. 1995 Apr;15(4):345-9.

PMID:
7617575
19.

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.

20.
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