Prevalence of Genetic Testing in CHARGE Syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://link.springer.com/content/pdf/10.1007/s10897-010-9328-7
Reference33 articles.
1. Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., et al. (2006). Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. The Journal of Pediatrics, 148(3), 410–414.
2. Bergman, J. E., de Wijs, I., Jongmans, M. C., Admiraal, R. J., Hoefsloot, L. H., & van Ravenswaaij-Arts, C. M. (2008). Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European Journal of Medical Genetics, 51, 417–425.
3. Blake, K. D., Davenport, S. L., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., et al. (1998). CHARGE association: an update and review for the primary pediatrician. Clinical Pediatrics, 37, 159–174.
4. Bosman, E. A., Penn, A. C., Ambrose, J. C., Kettleborough, R., Stemple, D. L., & Steel, K. P. (2005). Multiple mutations in mouse CHD7 provide models for CHARGE syndrome. Human Molecular Genetics, 14(22), 3463–3476.
5. Delahaye, A., Sznajer, Y., Lyonnet, S., Elmaleh-Berges, M., Delpierre, I., Audollent, S., et al. (2007). Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clinical Genetics, 72, 112–121.
Cited by 7 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. CHARGE syndrome, from occurrence to treatment;Human Gene;2023-05
2. Out‐of‐pocket and private pay in clinical genetic testing: A scoping review;Clinical Genetics;2021-06-21
3. Identifying pain in children with CHARGE syndrome;Scandinavian Journal of Pain;2018-09-18
4. A qualitative evaluation of the National Expert Team regarding the assessment and diagnosis of deafblindness in Sweden;Scandinavian Journal of Disability Research;2016-12-21
5. Clinical utility gene card for: CHARGE syndrome - update 2015;European Journal of Human Genetics;2015-02-18
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