Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
出版年份 2014 全文链接
标题
Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 9, Pages 2310-2316
出版商
Wiley
发表日期
2014-06-18
DOI
10.1002/ajmg.a.36646
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Oncogenic RIT1 mutations in lung adenocarcinoma
- (2014) A H Berger et al. ONCOGENE
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)
- (2013) Laura Mazzanti et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The RASopathies
- (2013) Katherine A. Rauen Annual Review of Genomics and Human Genetics
- Rit subfamily small GTPases: Regulators in neuronal differentiation and survival
- (2013) Geng-Xian Shi et al. CELLULAR SIGNALLING
- Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies
- (2013) I Gómez-Seguí et al. LEUKEMIA
- Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
- (2012) Bahareh Rabbani et al. JOURNAL OF HUMAN GENETICS
- Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
- (2012) Donna M McDonald-McGinn et al. JOURNAL OF MEDICAL GENETICS
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Rit GTPase regulates a p38 MAPK-dependent neuronal survival pathway
- (2012) Weikang Cai et al. NEUROSCIENCE LETTERS
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
- (2010) Marco Tartaglia et al. Annals of the New York Academy of Sciences
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz 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
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
- (2009) William E Tidyman et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- (2009) Viviana Cordeddu et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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