Showing results (11-20 of 28) with videos related to
Sort By:
Pageof 3
Breast Cancer Research and Treatment|July 20, 2011
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium membersMads Thomassen, Ana Blanco, Marco Montagna, et al.International Journal of Cancer|October 17, 2013
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantsSara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, et al.Human Mutation|December 28, 2017
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11Annelot Baert, Eva Machackova, Ilse Coene, et al.Human Molecular Genetics|February 27, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumMara Colombo, Marinus J Blok, Phillip Whiley, et al.Journal of Medical Genetics|April 10, 2016
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samplesJames D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, et al.Journal of Medical Genetics|February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variantsAnkita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.Journal of the National Cancer Institute|November 25, 2024
Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriersShuai Li, Laura Madanat-Harjuoja, Goska Leslie, et al.Clinical Chemistry|November 12, 2013
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingPhillip J Whiley, Miguel de la Hoya, Mads Thomassen, et al.Cancers|January 30, 2020
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer CasesGisella Figlioli, Anders Kvist, Emma Tham, et al.Pageof 3