Showing results (321-330 of 330) with videos related to
Sort By:
Pageof 33
You have reached the last page of results.This site can display upto 330 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variantsHongyan Li, Christoph Engel, Miguel de la Hoya, et al.Human Molecular Genetics|March 25, 2016
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 algorithmsMiguel de la Hoya, Omar Soukarieh, Irene López-Perolio, et al.Science Translational Medicine|March 31, 2017
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosisTania F Gendron, Jeannie Chew, Jeannette N Stankowski, et al.Journal of Medical Genetics|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languagesArcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 25, 2022
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic VariantsShuai Li, Valentina Silvestri, Goska Leslie, et al.Human Mutation|May 10, 2024
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.Journal of the National Cancer Institute|October 13, 2018
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization StudyFrank Qian, Shengfeng Wang, Jonathan Mitchell, et al.American Journal of Human Genetics|October 1, 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachSandrine M Caputo, Lisa Golmard, Mélanie Léone, et al.Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.Human Mutation|February 16, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsTimothy R Rebbeck, Tara M Friebel, Eitan Friedman, et al.Pageof 33