Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference36 articles.
1. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998
2. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu Rev Genomics Hum Genet,2006
3. The roles of cilia in developmental disorders and disease;Bisgrove;Development,2006
4. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome;Budny;Hum Genet,2006
5. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005
Cited by 78 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. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis;Orphanet Journal of Rare Diseases;2024-08-23
2. Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin;International Journal of Molecular Sciences;2023-12-15
3. Non-motile Ciliopathies of the Kidney;Research Journal of Biotechnology;2023-10-15
4. Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome;Genes;2023-01-27
5. Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients;Journal of Child Neurology;2022-12-25
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