Prediction and assessment of splicing alterations: implications for clinical testing.
about
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsGenetic variation of pre-mRNA alternative splicing in human populationsGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingEvaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityBayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significanceTumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityFunctional characterization of BRCA1 gene variants by mini-gene splicing assay.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.PRKC-ζ Expression Promotes the Aggressive Phenotype of Human Prostate Cancer Cells and Is a Novel Target for Therapeutic Intervention.Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.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.Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicFunctional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesMicrosatellite instability use in mismatch repair gene sequence variant classificationExonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsAssessment of functional effects of unclassified genetic variants.The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.Role of genetic testing in the management of patients with inherited porphyria and their families.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
P2860
Q24293661-14CCB8D9-8AD7-472E-B95B-B0DF0F2A90E4Q26858897-1CD50FE1-D28D-4C4A-9B45-5739A2C6496FQ28264559-F6896640-CA62-4DE0-B8B4-151373581B14Q28652730-43FAAB7A-8BCF-40D6-B984-277AC2B670D4Q30657823-55413A98-6942-4231-9F01-AE2D59835203Q31109088-709B6AE6-F1C4-48F4-8361-1D4F0E5F9D7BQ33379396-74F60FEC-17C5-4787-BABD-437A987B576AQ33589578-9562B786-3633-45E2-B424-3DB1B958A611Q33700463-21C61053-D628-42A2-BD84-D02D71797173Q33781403-04AB15BF-4864-49DA-9D8A-B9BC5F5E7B42Q34252077-7594B4D0-46D5-406F-A630-56F0FCF7335FQ34495985-83697D14-5085-44A0-BB5D-65DD0C667D7DQ34508273-439E3072-ED7D-4D55-AC35-765E1F337273Q34603197-5D5B4C5B-49D0-4303-8AD2-9435136C18DCQ34961153-86916FC9-5293-406F-9DAE-F46405C7F8DBQ34972318-0AC27BA1-FE19-4193-BE13-363733A9975CQ35082686-13E98C23-011C-438C-9323-8CADB4A50102Q35121513-9E75B464-B04F-4482-8961-1B69CAD928B3Q35167900-D2C40036-6F6E-475E-AA8C-07B9D7F24C92Q35203528-03C94A59-E1E0-49C7-AEB7-DB9BDEF365BAQ35211713-50159274-D230-47F5-8E8C-70655098D313Q35618857-4AF04A27-890D-41FE-AB28-FC7EE3775CB3Q35808472-E46E36DA-191D-4890-93E3-158B0836DC45Q35892850-85B03890-BDF4-4469-8B48-1714D73DC8FFQ36247119-BD9BBE6F-B47D-4F77-9B2D-09F5CEC9191BQ36512734-25B6B8DF-2E4E-4E15-9ADA-C5A66E3020C9Q36833424-F9496826-66EC-4452-8442-B64BB7C4D55FQ36871668-4F0513BB-BB0E-4247-88E9-E166661696A4Q37254403-FE126251-7EF8-4646-AA9D-0E218D559F9DQ37308298-7E334B8C-F857-4013-918D-7A5FB3E17A17Q37334266-96A0E633-300E-4D74-B474-2B6E87CB163FQ37465588-356CC75B-11A7-4E2C-A006-B37195948052Q37525477-75342ED0-3E1A-4F9A-83F5-2406A391AC5CQ38079179-975CACD4-CD9E-4FE8-8419-AF2002E1F8EBQ38100668-A5DA5951-8BBB-4F40-9BC2-5EADD4AB1F6AQ38225712-6BBFEF5F-0F20-4C2C-A2B6-51F806FB1C2EQ38652003-0B92D78F-8A83-459A-976A-6BBAB8F68C6EQ38787335-5D90F23B-61E9-49AA-8606-87342C76AEA6Q38971197-27EDCE06-06DE-43D4-A63C-56779F82D3EBQ39389539-61EA5A00-1192-4FD1-9A5B-869757F775EF
P2860
Prediction and assessment of splicing alterations: implications for clinical testing.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Prediction and assessment of splicing alterations: implications for clinical testing.
@ast
Prediction and assessment of splicing alterations: implications for clinical testing.
@en
type
label
Prediction and assessment of splicing alterations: implications for clinical testing.
@ast
Prediction and assessment of splicing alterations: implications for clinical testing.
@en
prefLabel
Prediction and assessment of splicing alterations: implications for clinical testing.
@ast
Prediction and assessment of splicing alterations: implications for clinical testing.
@en
P2093
P2860
P50
P356
P1433
P1476
Prediction and assessment of splicing alterations: implications for clinical testing.
@en
P2093
Frans B L Hogervorst
IARC Unclassified Genetic Variants Working Group
Olga M Sinilnikova
P2860
P304
P356
10.1002/HUMU.20901
P577
2008-11-01T00:00:00Z