Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
出版年份 2011 全文链接
标题
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
作者
关键词
-
出版物
HUMAN MUTATION
Volume 32, Issue 6, Pages 678-687
出版商
Wiley
发表日期
2011-03-11
DOI
10.1002/humu.21495
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。- Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH
- (2010) Simon A. Joosse et al. BREAST CANCER RESEARCH AND TREATMENT
- The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
- (2010) Katerina Homolova et al. HUMAN MUTATION
- Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
- (2010) Logan C. Walker et al. HUMAN MUTATION
- Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
- (2009) Virginie Caux-Moncoutier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
- (2009) Thomas Rio Frio et al. HUMAN MUTATION
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007
- (2008) Gordon F. Schwartz et al. CANCER
- Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition
- (2008) Yang Yu et al. CELL
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- Assessment of functional effects of unclassified genetic variants
- (2008) Fergus J. Couch et al. HUMAN MUTATION
- Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group
- (2008) Sean V. Tavtigian et al. HUMAN MUTATION
- Prediction and assessment of splicing alterations: implications for clinical testing
- (2008) Amanda B. Spurdle et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- A deep intronic mutation inFGBcreates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
- (2008) Ryan L. Davis et al. HUMAN MUTATION
- Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
- (2008) Maaike P.G. Vreeswijk et al. HUMAN MUTATION
- Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators
- (2008) Amanda B. Spurdle et al. JOURNAL OF CLINICAL ONCOLOGY
- Touchdown PCR for increased specificity and sensitivity in PCR amplification
- (2008) Darren J Korbie et al. Nature Protocols
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