SMARCB1/INI1maternal germ line mosaicism in schwannomatosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01249.x/fullpdf
Reference24 articles.
1. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.;Huson;J Med Genet,1989
2. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.;Evans;J Med Genet,1992
3. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas;Kluwe;J Med Genet,2003
4. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring;Moyhuddin;J Med Genet,2003
5. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification;Evans;J Med Genet,2007
Cited by 41 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. Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors;Neuro-Oncology;2024-08-02
2. Mosaic Manifestation of Autosomal Dominant Skin Disorders;Mosaicism in Human Skin;2022-11-24
3. The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex;Clinics in Dermatology;2022-07
4. Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore;Hereditary Cancer in Clinical Practice;2022-06-13
5. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis;International Journal of Molecular Sciences;2021-05-29
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