Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants
Author:
Funder
Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference46 articles.
1. A human syndrome caused by immotile cilia;BA Afzelius;Science,1976
2. al. e. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease;MR Knowles;American journal of respiratory and critical care medicine,2013
3. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure;M Boon;Orphanet J Rare Dis,2014
4. Primary ciliary dyskinesia: age at diagnosis and symptom history;ME Coren;Acta Paediatr,2002
5. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia;J Frija-Masson;Thorax,2017
Cited by 26 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 homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans;Andrology;2024-06-27
2. Síndrome de Kartagener: a propósito de un caso;Anatomía Digital;2023-02-03
3. Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis;Journal of Investigative Dermatology;2023-02
4. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility;Journal of Assisted Reproduction and Genetics;2022-12-14
5. Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA‐Sequencing Analysis in Patients With Systemic Sclerosis;Arthritis & Rheumatology;2022-11-29
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