Novel and De-novo TruncatingPAX6Mutations and Ocular Phenotypes in Thai Aniridia Patients-Reference-Cited by-同舟云学术

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Novel and De-novo TruncatingPAX6Mutations and Ocular Phenotypes in Thai Aniridia Patients

Published:2006-01 Issue:1 Volume:27 Page:21-27
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Atchaneeyasakul La-ongsri,Trinavarat Adisak,Dulayajinda Dhaivadee,Kumpornsin Kornphet,Thongnoppakhun Wanna,Yenchitsomanus Pa-thai,Limwongse Chanin

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1080/13816810500481667

Reference26 articles.

1. Population-based risk estimates of Wilms tumor in sporadic aniridia

2. Pax-6, a murine paired box gene, is expressed in the developing CNS

3. Pax6 is required for differentiation of glucagon-producing α-cells in mouse pancreas

4. Homology of the eyeless Gene of Drosophila to the Small eye Gene in Mice and Aniridia in Humans

5. Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia;Genetic Testing and Molecular Biomarkers;2019-07

2. PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants;Clinical & Experimental Ophthalmology;2017-06-15

3. Mutation Analysis of PAX6 in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia;Ophthalmic Research;2011-06-21

4. Clinical and molecular aspects of aniridia;Clinical Genetics;2010-05

5. A decade in search of myopia genes;Frontiers in Bioscience;2010

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