The Role of X-Chromosome Inactivation in Retinal Development and Disease
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-17121-0_43
Reference38 articles.
1. Ali A, Feroze AH, Rizvi ZH et al (2003) Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. Am J Ophthalmol 136:767–769
2. Amos-Landgraf JM, Cottle A, Plenge RM et al (2006) X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 79:493–499
3. Banin E, Mizrahi-Meissonnier L, Neis R et al (2007) A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A 143A:1150–1158
4. Beltran WA, Acland GM, Aguirre GD (2009) Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations. Invest Ophthalmol Vis Sci 50:3985–3995
5. Bolduc V, Chagnon P, Provost S et al (2008) No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. J Clin Invest 118:333–341
Cited by 33 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. Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey;Ophthalmic Genetics;2024-06-07
2. Measuring X inactivation skew for retinal diseases with adaptive nanopore sequencing;2024-03-23
3. Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report;Frontiers in Pediatrics;2024-01-25
4. Establishment of the Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Disease Variant Curation Expert Panel;Essentials in Ophthalmology;2024
5. Random Allelic Expression in Inherited Retinal Disease Genes;Current Issues in Molecular Biology;2023-12-13
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