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Items: 1 to 20 of 329

1.

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.

3.

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV.

Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257.

4.
5.

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B.

Am J Hum Genet. 2006 Aug;79(2):358-64. Epub 2006 Jun 8.

6.

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS.

Hum Genet. 2004 Sep;115(4):302-9.

PMID:
15257456
8.

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.

9.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H.

Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8. Epub 2009 Jun 14.

PMID:
19526372
10.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2009 Dec 3;15:2526-34.

11.

Renal coloboma syndrome.

Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL.

Ophthalmology. 2001 Oct;108(10):1912-6.

PMID:
11581073
12.

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
13.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

14.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.

Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.

15.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Apr 15;16:682-8.

16.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK.

Hum Mutat. 2009 Oct;30(10):1378-86. doi: 10.1002/humu.21079.

PMID:
19708017
17.

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M.

Am J Med Genet A. 2003 Jan 30;116A(3):215-21.

PMID:
12503095
18.

Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.

Lehmann OJ, Tuft S, Brice G, Smith R, Blixt A, Bell R, Johansson B, Jordan T, Hitchings RA, Khaw PT, John SW, Carlsson P, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2003 Jun;44(6):2627-33.

PMID:
12766066
19.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
20.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

PMID:
16565358

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