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Results: 1 to 20 of 198

Similar articles for PubMed (Select 21397818)

1.

A case of aniridia with unilateral Peters anomaly.

Sawada M, Sato M, Hikoya A, Wang C, Minoshima S, Azuma N, Hotta Y.

J AAPOS. 2011 Feb;15(1):104-6. doi: 10.1016/j.jaapos.2010.11.006.

PMID:
21397818
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.

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
4.

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y.

Eye (Lond). 2011 Dec;25(12):1581-9. doi: 10.1038/eye.2011.215. Epub 2011 Sep 9.

5.

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V.

Nat Genet. 1994 Feb;6(2):168-73.

PMID:
8162071
6.

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

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

Mol Vis. 2010 Apr 15;16:676-81.

7.

PAX 6 is normal in most cases of Peters' anomaly.

Churchill AJ, Booth AP, Anwar R, Markham AF.

Eye (Lond). 1998;12 ( Pt 2):299-303.

PMID:
9683959
8.

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.

9.

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.

10.

Three cases with unusual ophthalmic phenotypes of congenital aniridia.

Lee NY, Lee YE, Mok J, Kim M, Park SH.

Can J Ophthalmol. 2013 Aug;48(4):340-2. doi: 10.1016/j.jcjo.2013.02.009.

PMID:
23931477
11.

[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
12.

PAX6 mutations: genotype-phenotype correlations.

Tzoulaki I, White IM, Hanson IM.

BMC Genet. 2005 May 26;6:27.

13.

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M.

Diabetes. 2002 Jan;51(1):224-30.

14.

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.

15.

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.

16.

PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.

Khan AO, Aldahmesh MA.

Ophthalmic Genet. 2008 Sep;29(3):145-8. doi: 10.1080/13816810802078195.

PMID:
18766996
17.

Whole exome sequence analysis of Peters anomaly.

Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV.

Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.

PMID:
25182519
18.

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M.

Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. No abstract available.

PMID:
17595013
19.

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B.

J Glaucoma. 2006 Dec;15(6):499-504.

PMID:
17106362
20.

Analysis of PAX6 gene in a Chinese aniridia family.

Zhu HY, Wu LQ, Pan Q, Liang DS, Long ZG, Dai HP, Xia K, Xia JH.

Chin Med J (Engl). 2006 Aug 20;119(16):1400-2. No abstract available.

PMID:
16934188
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