Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

Published:2012-01-30 Issue:6 Volume:82 Page:514-520
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Usami S¹,Abe S¹²,Nishio S¹,Sakurai Y³,Kojima H³,Tono T⁴,Suzuki N¹

Affiliation:

1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan

2. Department of Otorhinolaryngology, Abe ENT Clinic, Ota‐ku, Japan

3. Department of Otorhinolaryngology, Jikei University School of Medicine, Minato‐ku, Tokyo, Japan

4. Department of Otorhinolaryngology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01831.x

Reference22 articles.

1. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

2. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

3. Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

4. A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

5. The etiology of otosclerosis: A combination of genes and environment

Cited by 22 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. Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss;Genes;2024-04-29

2. A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant;Clinical Dysmorphology;2022-07-14

3. Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation;American Journal of Medical Genetics Part A;2021-09-02

4. Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?;ORL;2021

5. Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation;BMC Medical Genomics;2020-12

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