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Items: 1 to 20 of 84

1.

The Trp117Arg mutation of the COCH gene causes deafness in Koreans.

Baek JI, Cho HJ, Choi SJ, Kim LS, Zhao C, Sagong BR, Kim UK, Jeong SW.

Clin Genet. 2010 Apr;77(4):399-403. doi: 10.1111/j.1399-0004.2009.01362.x. No abstract available.

PMID:
20447147
2.
3.

Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

He W, Li X, Chen J, Xu L, Zhang F, Dai Q, Cui H, Wang DM, Yu J, Hu S, Lu S.

Ophthalmic Genet. 2011 Mar;32(1):48-53. doi: 10.3109/13816810.2010.535886. Epub 2010 Dec 21.

PMID:
21174522
4.

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.

Otol Neurotol. 2005 Sep;26(5):926-33.

PMID:
16151339
5.

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
6.

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernández-Calvín FJ, Herraiz C, Barberá R, Navas C, Moreno F.

J Med Genet. 2001 May;38(5):E13. No abstract available.

7.

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP.

Hum Mol Genet. 1999 Feb;8(2):361-6.

PMID:
9931344
8.
9.

[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].

Qu EJ, Zhang HB, Chen LY, Gu LB.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):536-8. doi: 10.3760/cma.j.issn.1003-9406.2009.05.013. Chinese.

PMID:
19806576
10.

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

Am J Med Genet A. 2006 Mar 15;140(6):558-66.

PMID:
16470690
11.

A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.

Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X.

Mol Vis. 2007 Sep 11;13:1651-6.

PMID:
17893667
12.

[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

Li ND, Cui LH, Wang LM, Ma HZ, Zhang LL, Yue YY, Zhao KX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):11-4. Chinese.

PMID:
18247295
13.

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V.

Mol Vis. 2007 Sep 11;13:1657-65.

PMID:
17893674
14.

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.

15.

Characterization of a new HLA-C allele in a Chinese family by sequence-based typing: HLA-Cw*0348.

Zou HY, Li Z, Deng ZH.

Tissue Antigens. 2009 Jun;73(6):616-8. doi: 10.1111/j.1399-0039.2009.01250.x. Epub 2009 Apr 6.

PMID:
19392803
16.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Li D, Zhu Q, Lin H, Zhou N, Qi Y.

Mol Vis. 2008;14:2205-10. Epub 2008 Dec 5.

17.

[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].

Liu Q, Han DY, Ji YB, Li JQ, Lan L, Zhao C, Wang QJ.

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2010 Apr;26(4):376-8. Chinese.

PMID:
20564826
18.

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Seong MW, Cho S, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS.

Clin Genet. 2009 Aug;76(2):152-60. doi: 10.1111/j.1399-0004.2009.01202.x. Epub 2009 Jul 28.

PMID:
19656164
20.

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K.

Mol Vis. 2006 May 22;12:518-22.

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