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Results: 1 to 20 of 112

Similar articles for PubMed (Select 11424921)

1.

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.

Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, B├╝rger J.

J Med Genet. 2001 Jun;38(6):392-6. No abstract available.

2.

Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.

Hansen L, Rosenberg T.

Invest Ophthalmol Vis Sci. 2012 Sep 25;53(10):6666. No abstract available.

PMID:
23011185
3.

Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.

Kumar KD, Kumar GS, Santhiya ST.

Invest Ophthalmol Vis Sci. 2012 Aug 22;53(9):5770. doi: 10.1167/iovs.12-10575. No abstract available.

PMID:
22915216
4.

[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].

Yan M, Zhou X, Chen YM, Ma JJ, Xiong CL, Cheng XH.

Zhonghua Yan Ke Za Zhi. 2009 Aug;45(8):693-8. Chinese.

PMID:
20021880
5.

Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.

Wang L, Lin H, Gu J, Su H, Huang S, Qi Y.

Ophthalmic Res. 2009;41(3):148-53. doi: 10.1159/000209668. Epub 2009 Mar 26.

PMID:
19321936
6.

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X.

Hum Mutat. 2009 May;30(5):E603-11. doi: 10.1002/humu.20995.

PMID:
19306328
7.

Genetics of crystallins: cataract and beyond.

Graw J.

Exp Eye Res. 2009 Feb;88(2):173-89. doi: 10.1016/j.exer.2008.10.011. Epub 2008 Nov 1. Review.

PMID:
19007775
8.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.

Ophthalmology. 2009 Jan;116(1):154-162.e1. doi: 10.1016/j.ophtha.2008.08.044. Epub 2008 Nov 12.

PMID:
19004499
9.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.

Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.

10.

Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.

Zhang S, Liu M, Dong JM, Yin K, Wang P, Bu J, Li J, Hao YS, Hao P, Wang QK, Wang L.

Mol Vis. 2008;14:1893-7. Epub 2008 Oct 22.

11.

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yao K, Jin C, Zhu N, Wang W, Wu R, Jiang J, Shentu X.

Mol Vis. 2008 Jul 9;14:1272-6.

12.
13.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF.

Mol Vis. 2008 Jun 16;14:1157-70.

14.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X.

Mol Vis. 2008 Apr 24;14:750-5.

15.

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.

Mol Vis. 2008 Apr 18;14:727-31.

16.

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

Gu F, Luo W, Li X, Wang Z, Lu S, Zhang M, Zhao B, Zhu S, Feng S, Yan YB, Huang S, Ma X.

Hum Mutat. 2008 May;29(5):769. doi: 10.1002/humu.20724.

PMID:
18407550
17.

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X.

Mol Vis. 2008 Mar 4;14:418-24.

18.

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract].

Lin Y, Liu NN, Lei CT, Fan YC, Liu XQ, Yang Y, Wang JF, Liu B, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):59-62. Chinese.

PMID:
18247306
19.

Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation.

Li L, Chang B, Cheng C, Chang D, Hawes NL, Xia CH, Gong X.

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):304-9. doi: 10.1167/iovs.07-0942.

PMID:
18172107
20.
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