Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Author:

Ansari Morad,Rainger Jacqueline,Hanson Isabel M.,Williamson Kathleen A.,Sharkey Freddie,Harewood Louise,Sandilands Angela,Clayton-Smith Jill,Dollfus Helene,Bitoun Pierre,Meire Francoise,Fantes Judy,Franco Brunella,Lorenz Birgit,Taylor David S.,Stewart Fiona,Willoughby Colin E.,McEntagart Meriel,Khaw Peng Tee,Clericuzio Carol,Van Maldergem Lionel,Williams Denise,Newbury-Ecob Ruth,Traboulsi Elias I.,Silva Eduardo D.,Madlom Mukhlis M.,Goudie David R.,Fleck Brian W.,Wieczorek Dagmar,Kohlhase Juergen,McTrusty Alice D.,Gardiner Carol,Yale Christopher,Moore Anthony T.,Russell-Eggitt Isabelle,Islam Lily,Lees Melissa,Beales Philip L.,Tuft Stephen J.,Solano Juan B.,Splitt Miranda,Hertz Jens Michael,Prescott Trine E.,Shears Deborah J.,Nischal Ken K.,Doco-Fenzy Martine,Prieur Fabienne,Temple I. Karen,Lachlan Katherine L.,Damante Giuseppe,Morrison Danny A.,van Heyningen Veronica,FitzPatrick David R.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference68 articles.

1. Changes in causes of low vision between 1988 and 2009 in a Dutch population of children;N Boonstra;Acta Ophthalmol,2012

2. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype;K Gronskov;Eur J Hum Genet,1999

3. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia;SK Dubey;Mol Vis,2015

4. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2;AM Hever;Clin Genet,2006

5. Aniridia;M Hingorani;Eur J Hum Genet,2012

Cited by 55 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

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3