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Items: 1 to 20 of 161

1.

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL.

Nat Genet. 1994 Aug;7(4):463-71. Erratum in: Nat Genet 1994 Oct;8(2):203.

PMID:
7951315
2.

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.

3.

Three novel aniridia mutations in the human PAX6 gene.

Martha A, Strong LC, Ferrell RE, Saunders GF.

Hum Mutat. 1995;6(1):44-9.

PMID:
7550230
4.

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.

Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF.

Am J Hum Genet. 1994 May;54(5):801-11. Erratum in: Am J Hum Genet 1994 Sep;55(3):602.

5.

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

Singh S, Chao LY, Mishra R, Davies J, Saunders GF.

Hum Mol Genet. 2001 Apr 15;10(9):911-8.

6.

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.

7.

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Glaser T, Walton DS, Maas RL.

Nat Genet. 1992 Nov;2(3):232-9.

PMID:
1345175
8.

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL.

Genes Dev. 1994 Sep 1;8(17):2022-34.

9.

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M.

Am J Hum Genet. 1999 Sep;65(3):656-63.

10.

[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].

Lin Y, Li J, Yang Y, Yang JY, Zhang B, Tang X, Liu XQ, Lu F, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):542-5. doi: 10.3760/cma.j.issn.1003-9406.2009.05.015. Chinese.

PMID:
19806578
11.

Missense mutations in the PAX6 gene in aniridia.

Azuma N, Hotta Y, Tanaka H, Yamada M.

Invest Ophthalmol Vis Sci. 1998 Dec;39(13):2524-8.

PMID:
9856761
12.

Mutations in the PAX6 gene in patients with hereditary aniridia.

Davis A, Cowell JK.

Hum Mol Genet. 1993 Dec;2(12):2093-7.

PMID:
8111379
13.
14.

[A novel mutation of the PAX6 gene in a Chinese family with aniridia].

Kang Y, Yuan HP, Li X, Li QJ, Wu Q, Hu Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):376-80. doi: 10.3760/cma.j.issn.1003-9406.2010.04.004. Chinese.

PMID:
20677140
15.

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.

Cai F, Zhu J, Chen W, Ke T, Wang F, Tu X, Zhang Y, Jin R, Wu X.

Mol Vis. 2010 Jun 22;16:1141-5.

16.

Genotype/phenotype correlations in aniridia.

Gupta SK, De Becker I, Tremblay F, Guernsey DL, Neumann PE.

Am J Ophthalmol. 1998 Aug;126(2):203-10.

PMID:
9727514
17.

Ten novel mutations found in Aniridia.

Wolf MT, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G.

Hum Mutat. 1998;12(5):304-13.

PMID:
9792406
18.

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V.

Hum Mol Genet. 1999 Feb;8(2):165-72.

19.

A novel PAX6 gene mutation in an Indian aniridia patient.

Neethirajan G, Hanson IM, Krishnadas SR, Vijayalakshmi P, Anupkumar K, Sundaresan P.

Mol Vis. 2003 May 29;9:205-9.

20.

Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.

Saunders GF, Chao LY.

Hum Mutat. 1998;Suppl 1:S207-8. No abstract available.

PMID:
9452088
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