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1.
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Breast Cancer Res Treat
; 185(3): 583-590, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33113089
2.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30890586
3.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30623411
4.
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
Int J Mol Sci
; 20(3)2019 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30736279
5.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008870
6.
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
Breast Cancer Res
; 19(1): 127, 2017 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-29183387
7.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24212087
8.
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.
Front Genet
; 10: 1139, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31803232
9.
Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
Front Oncol
; 8: 140, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29774201
10.
Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.
N Z Med J
; 128(1419): 56-61, 2015 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26365847
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