Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0455-y.pdf
Reference25 articles.
1. Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol. 1994;11(1):5–11.
2. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944–50. doi: 10.1002/ana.22124 .
3. Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, et al. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Med Gene. 2014;25(15):24. doi: 10.1186/1471–2350–15-24 .
4. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MECP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet. 2005;14(14):1935–46. doi: 10.1093/hmg/ddi198 .
5. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005;42(2):103–7. doi: 10.1136/jmg.2004.026237 .
Cited by 9 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. FoxG1 as a Potential Therapeutic Target for Alzheimer’s Disease: Modulating NLRP3 Inflammasome via AMPK/mTOR Autophagy Pathway;Cellular and Molecular Neurobiology;2024-04-17
2. Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies;Frontiers in Molecular Neuroscience;2022-12-07
3. Identification of a de novo mutation of FOXG1gene and comprehensive analysis for molecular factors in Chinese FOXG1-related Rett syndrome;2022-08-26
4. Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review;Molecular Cytogenetics;2020-09-03
5. A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation;Annals of Saudi Medicine;2020-07
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