Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
出版年份 2012 全文链接
标题
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
作者
关键词
-
出版物
NATURE GENETICS
Volume 44, Issue 11, Pages 1249-1254
出版商
Springer Nature
发表日期
2012-10-01
DOI
10.1038/ng.2421
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
- (2012) Mark E Lindsay et al. NATURE GENETICS
- Lessons on the pathogenesis of aneurysm from heritable conditions
- (2011) Mark E. Lindsay et al. NATURE
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
- (2011) Carine Le Goff et al. NATURE GENETICS
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
- (2011) Ingrid M B H van de Laar et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Noncanonical TGF Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice
- (2011) T. M. Holm et al. SCIENCE
- Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis
- (2010) R.A. Norris et al. DEVELOPMENTAL DYNAMICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- I-TASSER server for protein 3D structure prediction
- (2008) Yang Zhang BMC BIOINFORMATICS
- Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome
- (2008) Benjamin S. Brooke et al. NEW ENGLAND JOURNAL OF MEDICINE
- Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
- (2008) A. Battaglia et al. PEDIATRICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started