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Items: 1 to 20 of 152

1.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I.

Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14.

2.

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P.

Mol Vis. 2015 Jan 27;21:88-97. eCollection 2015.

3.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

4.

Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia.

Saffra N, Agarwal S, Chiang JP, Masini R, Bertolucci A.

Arch Ophthalmol. 2012 Oct;130(10):1324-7. doi: 10.1001/archophthalmol.2012.1807. No abstract available.

PMID:
23044950
5.

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Bredrup C, Knappskog PM, Rødahl E, Boman H.

Arch Ophthalmol. 2008 Mar;126(3):428-30. doi: 10.1001/archopht.126.3.428. No abstract available.

PMID:
18332330
6.

Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.

Yan N, Zhao Y, Wang Y, Xie A, Huang H, Yu W, Liu X, Cai SP.

Mol Vis. 2011;17:2612-7. Epub 2011 Oct 5.

7.

Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.

Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA, Gottlob I.

Ophthalmology. 2013 Dec;120(12):2714-24. doi: 10.1016/j.ophtha.2013.07.018. Epub 2013 Oct 22.

PMID:
24161406
8.

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, Dollfus H.

Am J Ophthalmol. 2004 Dec;138(6):1016-21.

PMID:
15629294
9.

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N.

Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):552-8.

PMID:
10955655
10.

A novel PAX6 mutation in Chinese patients with severe congenital aniridia.

He Y, Pan Z, Luo F.

Curr Eye Res. 2012 Oct;37(10):879-83. doi: 10.3109/02713683.2012.688165. Epub 2012 May 23.

PMID:
22621390
11.

Foveal development and nystagmus.

Proudlock F, Gottlob I.

Ann N Y Acad Sci. 2011 Sep;1233:292-7. doi: 10.1111/j.1749-6632.2011.06174.x.

PMID:
21951007
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.

[Hereditary foveal hypoplasia - clinical differentiation].

Schroeder HW, Orth U, Meyer-König E, Gal A.

Klin Monbl Augenheilkd. 2003 Aug;220(8):559-62. German.

PMID:
12953159
14.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS.

Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18.

15.

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.

Jin C, Wang Q, Li J, Zhu Y, Shentu X, Yao K.

Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.

16.

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

Cao X, Zhou XM, Gan R, Jiang LQ, Lu L, Wang Y, Fan N, Yin Y, Yan NH, Yu WH, Liu XY.

Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.

17.

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Hingorani M, Williamson KA, Moore AT, van Heyningen V.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. doi: 10.1167/iovs.08-2827. Epub 2009 Feb 14.

PMID:
19218613
18.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV.

Mol Vis. 2010 Aug 22;16:1705-11.

19.

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.

Mol Vis. 2009 Oct 17;15:2074-83.

20.

Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.

Xiao X, Li S, Zhang Q.

Ophthalmic Genet. 2012 Jun;33(2):119-21. doi: 10.3109/13816810.2011.642452. Epub 2011 Dec 15.

PMID:
22171686
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