Skeletal ciliopathies: a pattern recognition approach
Author:
Publisher
Springer Science and Business Media LLC
Subject
Radiology, Nuclear Medicine and imaging
Link
http://link.springer.com/content/pdf/10.1007/s11604-020-00920-w.pdf
Reference59 articles.
1. Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012;160(3):165–74.
2. Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018;39(1):152–66.
3. Yuan X, Serra RA, Yang S. Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton. Ann N Y Acad Sci. 2015;1335:78–99.
4. Schmidts M. Clinical genetics and pathobiology of ciliary chondrodysplasias. J Pediatric Genet. 2014;3(2):46–944.
5. Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, et al. Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Sci Rep. 2017;7(1):15585.
Cited by 36 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. Developmental distribution of osteocyte lacunae in the limb bone cortex of Musivavis amabilis with a review of bone microstructure adaptations in Enantiornithes;Cretaceous Research;2024-06
2. Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome;European Journal of Human Genetics;2024-05-03
3. A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia;American Journal of Medical Genetics Part A;2024-04-22
4. Polycystins recruit cargo to distinct ciliary extracellular vesicle subtypes;2024-04-18
5. Renal Pathology of Ciliopathies;Pediatric and Developmental Pathology;2024-04-14
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