A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

Published:2009-04 Issue:4 Volume:98 Page:693-698
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:

Author:

Nyström Anna-Maja,Ekvall Sara,Strömberg Bo,Holmström Gerd,Thuresson Ann-Charlotte,Annerén Göran,Bondeson Marie-Louise

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2008.01170.x/fullpdf

Reference27 articles.

1. Hyperactive Ras in developmental disorders and cancer;Schubbert;Nat Rev Cancer,2007

2. Noonan syndrome;Allanson;J Med Genet,1987

3. Germline gain-of-function mutations in RAF1 cause Noonan syndrome;Razzaque;Nat Genet,2007

4. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy;Pandit;Nat Genet,2007

5. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders;Nystrom;J Med Genet,2008

Cited by 32 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. Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a];Cancers;2024-06-29

2. Protein Domain-Specific Genotype-Phenotype Correlation Study of Neurofibromatosis Type 1;2024

3. Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums;American Journal of Medical Genetics Part A;2021-11-19

4. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings;Clinical Genetics;2021-08-17

5. Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1;Human Mutation;2019-10-26

同舟云学术

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