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Items: 1 to 20 of 146

1.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q.

Mol Vis. 2009 Dec 27;15:2911-8.

2.

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.

Br J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21.

PMID:
20494911
3.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.

Mol Vis. 2010 Jun 23;16:1162-8.

4.

Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.

Chen T, Li Q, Xu J, Ding K, Wang Y, Wang W, Li S, Shen Y.

Eur J Hum Genet. 2007 Jan;15(1):23-8. Epub 2006 Sep 27.

5.

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

Vidya NG, Rajkumar S, Vasavada AR.

Ophthalmic Genet. 2018 Jun;39(3):344-352. doi: 10.1080/13816810.2018.1436184. Epub 2018 Feb 20.

PMID:
29461140
6.

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.

7.

A novel human CRYGD mutation in a juvenile autosomal dominant cataract.

Roshan M, Vijaya PH, Lavanya GR, Shama PK, Santhiya ST, Graw J, Gopinath PM, Satyamoorthy K.

Mol Vis. 2010 May 22;16:887-96.

8.

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Wang K, Wang B, Wang J, Zhou S, Yun B, Suo P, Cheng J, Ma X, Zhu S.

Mol Vis. 2009 Dec 16;15:2813-20.

9.

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Xie X, Zhou X, Qu X, Wen J, Tian Y, Zheng F.

Mol Vis. 2008 Sep 5;14:1666-72.

10.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.

Mol Vis. 2008;14:2067-75. Epub 2008 Nov 17.

11.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q.

Mol Vis. 2008;14:1974-82. Epub 2008 Oct 30.

12.

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.

Sun W, Xiao X, Li S, Guo X, Zhang Q.

Mol Vis. 2011;17:1508-13. Epub 2011 Jun 7.

13.

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
14.

Absence of NR2E1 mutations in patients with aniridia.

Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM.

Mol Vis. 2012;18:2770-82. Epub 2012 Nov 22.

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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
19.

The genetic architecture of microphthalmia, anophthalmia and coloboma.

Williamson KA, FitzPatrick DR.

Eur J Med Genet. 2014 Aug;57(8):369-80. doi: 10.1016/j.ejmg.2014.05.002. Epub 2014 May 22. Review.

PMID:
24859618
20.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Aijaz S, Clark BJ, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, Collin R, Ragge N, Christoforou A, Brown A, Hanson I.

Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3871-6.

PMID:
15505031

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