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Amanda B Spurdle

Showing results (61-70 of 397) with videos related to

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Frontiers in Oncology|May 19, 2018
Investigation of Experimental Factors That Underlie <i>BRCA1/2</i> mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic VariantsVanessa L Lattimore, John F Pearson, Margaret J Currie, et al.
Journal of Medical Genetics|December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Human Mutation|October 28, 2008
Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelDavid E Goldgar, Douglas F Easton, Graham B Byrnes, et al.
BMC Medical Genetics|May 29, 2010
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcriptsPhillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, et al.
Human Mutation|January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Breast Cancer Research and Treatment|June 27, 2007
Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studiesSharon E Johnatty, Amanda B Spurdle, Jonathan Beesley, et al.
Breast Cancer Research : BCR|November 11, 2005
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsChristopher Pettigrew, Nicola Wayte, Paul K Lovelock, et al.
American Journal of Epidemiology|November 17, 2011
A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese populationJyotsna Batra, Felicity Lose, Suzanne Chambers, et al.
Cancer Genetics|July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patientsCristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Scientific Reports|June 28, 2022
Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic targetDongli Liu, Kate Gunther, Luis A Enriquez, et al.
Pageof 40

Showing results (61-70 of 397) with videos related to

Sort By:
Pageof 40
Frontiers in Oncology|May 19, 2018
Investigation of Experimental Factors That Underlie <i>BRCA1/2</i> mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic VariantsVanessa L Lattimore, John F Pearson, Margaret J Currie, et al.
Journal of Medical Genetics|December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Human Mutation|October 28, 2008
Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelDavid E Goldgar, Douglas F Easton, Graham B Byrnes, et al.
BMC Medical Genetics|May 29, 2010
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcriptsPhillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, et al.
Human Mutation|January 4, 2020
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53Cristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Breast Cancer Research and Treatment|June 27, 2007
Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studiesSharon E Johnatty, Amanda B Spurdle, Jonathan Beesley, et al.
Breast Cancer Research : BCR|November 11, 2005
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsChristopher Pettigrew, Nicola Wayte, Paul K Lovelock, et al.
American Journal of Epidemiology|November 17, 2011
A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese populationJyotsna Batra, Felicity Lose, Suzanne Chambers, et al.
Cancer Genetics|July 13, 2019
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patientsCristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.
Scientific Reports|June 28, 2022
Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic targetDongli Liu, Kate Gunther, Luis A Enriquez, et al.
Pageof 40