Expansion of phenotype and genotypic data in CRB2-related syndrome

Author:

Lamont Ryan E,Tan Wen-Hann,Innes A Micheil,Parboosingh Jillian S,Schneidman-Duhovny Dina,Rajkovic Aleksandar,Pappas John,Altschwager Pablo,DeWard Stephanie,Fulton Anne,Gray Kathryn J,Krall Max,Mehta Lakshmi,Rodan Lance H,Saller Devereux N,Steele Deanna,Stein Deborah,Yatsenko Svetlana A,Bernier François P,Slavotinek Anne M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Slavotinek A, Kaylor J, Pierce H et al: CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015; 96: 162–169.

2. Ebarasi L, Ashraf S, Bierzynska A et al: Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet 2015; 96: 153–161.

3. Tepass U, Knust E : Crumbs and stardust act in a genetic pathway that controls the organization of epithelia in Drosophila melanogaster. Dev Biol 1993; 159: 311–326.

4. Katoh M, Katoh M : Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3. Int J Oncol 2004; 24: 743–749.

5. van den Hurk JA, Rashbass P, Roepman R et al: Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. Mol Vis 2005; 11: 263–273.

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