Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 108

1.

Missense mutations in the DNA-binding region and termination codon in PAX6.

Chao LY, Mishra R, Strong LC, Saunders GF.

Hum Mutat. 2003 Feb;21(2):138-45.

PMID:
12552561
2.

Mutation in the PAX6 gene in twenty patients with aniridia.

Chao LY, Huff V, Strong LC, Saunders GF.

Hum Mutat. 2000;15(4):332-9.

PMID:
10737978
3.

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

Neethirajan G, Nallathambi J, Krishnadas SR, Vijayalakshmi P, Shashikanth S, Collinson JM, Sundaresan P.

BMC Ophthalmol. 2006 Jun 27;6:28.

4.

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.

5.

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
6.

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A.

Mol Vis. 2008 Sep 8;14:1650-8.

7.

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.

PMID:
11309364
8.

Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.

Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, Liu J, Pan Z.

Ophthalmic Res. 2012;47(1):27-31. doi: 10.1159/000327593. Epub 2011 Jun 21.

PMID:
21691140
9.

A novel PAX6 deletion in a Chinese family with congenital aniridia.

Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, Pang CP, Zhang M.

Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.

10.

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.

Ramirez-Miranda A, Zenteno JC.

Mol Vis. 2006 Apr 7;12:318-23.

11.

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Grønskov K, Rosenberg T, Sand A, Brøndum-Nielsen K.

Eur J Hum Genet. 1999 Apr;7(3):274-86.

12.

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.

PMID:
9931324
13.

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T.

Hum Genet. 2001 Jul;109(1):11-8.

PMID:
11479730
14.

Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S.

J Hum Genet. 2007;52(7):571-4. Epub 2007 Jun 14.

PMID:
17568989
15.

PAX6, paired domain influences sequence recognition by the homeodomain.

Mishra R, Gorlov IP, Chao LY, Singh S, Saunders GF.

J Biol Chem. 2002 Dec 20;277(51):49488-94. Epub 2002 Oct 17.

16.

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
17.

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.

Yuan H, Kang Y, Shao Z, Li Y, Yang G, Xu N.

Mol Vis. 2007 Aug 30;13:1555-61.

PMID:
17893655
18.

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, Niikawa N, Amemiya T.

Eur J Ophthalmol. 2000 Apr-Jun;10(2):167-72. Review.

PMID:
10887930
19.

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.

Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N.

Am J Med Genet A. 2014 Mar;164A(3):634-8. doi: 10.1002/ajmg.a.36325. Epub 2013 Dec 19.

PMID:
24357251
20.

[Molecular genetic study of the PAX6 gene in aniridia patients].

Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G.

Ophthalmologe. 1998 Dec;95(12):828-30. German.

PMID:
10025146

Supplemental Content

Support Center