Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

Published:2019-11-02 Issue:6 Volume:40 Page:553-557
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Hernández V.¹,Pascual-Camps I.²,Aparisi M. J.³,Martínez-Matilla M.³,Martínez F.¹³,Cerón J. A¹,Pedrola L.³^ORCID

Affiliation:

1. Genetics Unit, La Fe University and Polytechnic Hospital, Valencia, Spain

2. Department of Ophthalmology, La Fe University and Polytechnic Hospital, Valencia, Spain

3. Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1692362

Reference22 articles.

1. Identification of the gene for Nance-Horan syndrome (NHS)

2. The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

3. Nance–Horan syndrome protein, NHS, associates with epithelial cell junctions

Cited by 5 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. Oral manifestations of Nance Horan syndrome: A systematic review of case reports;Oral Oncology Reports;2024-09

2. Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families;BMC Oral Health;2023-05-23

3. Nance-Horan Syndrome: Characterization of dental, clinical and molecular features in three new families;2023-01-03

4. A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family;International Journal of Ophthalmology;2022-06-18

5. Determination of miRNA expression profile in patients with prostate cancer and benign prostate hyperplasia;Turkish Journal of Medical Sciences;2022-01-01

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