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Sandra Bonache

Showing results (11-20 of 26) with videos related to

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Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Human Mutation|July 26, 2019
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genesGemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, et al.
Apoptosis : an International Journal on Programmed Cell Death|November 16, 2014
Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphismMaría J Fuentes-Raspall, Isabel Caragol, Carmen Alonso, et al.
Cancer Genetics|July 8, 2021
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patientsGemma Montalban, Sandra Bonache, Vanessa Bach, et al.
Journal of Medical Genetics|November 26, 2018
Screening of <i>BRCA1/2</i> deep intronic regions by targeted gene sequencing identifies the first germline <i>BRCA1</i> variant causing pseudoexon activation in a patient with breast/ovarian cancerGemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, et al.
Breast Cancer Research and Treatment|December 16, 2018
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>TLaura Duran-Lozano, Gemma Montalban, Sandra Bonache, et al.
Breast Cancer Research and Treatment|March 22, 2012
Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their originGorka Ruiz de Garibay, Sara Gutiérrez-Enríquez, Pilar Garre, et al.
Journal of Cancer Research and Clinical Oncology|October 12, 2018
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findingsSandra Bonache, Irene Esteban, Alejandro Moles-Fernández, et al.
Journal of Medical Genetics|February 5, 2022
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct <i>NF1</i> pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?Belen Garcia, Nuria Catasus, Andrea Ros, et al.
NPJ Breast Cancer|September 10, 2021
Clinical consequences of BRCA2 hypomorphismLaia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Human Mutation|July 26, 2019
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genesGemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, et al.
Apoptosis : an International Journal on Programmed Cell Death|November 16, 2014
Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphismMaría J Fuentes-Raspall, Isabel Caragol, Carmen Alonso, et al.
Cancer Genetics|July 8, 2021
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patientsGemma Montalban, Sandra Bonache, Vanessa Bach, et al.
Journal of Medical Genetics|November 26, 2018
Screening of <i>BRCA1/2</i> deep intronic regions by targeted gene sequencing identifies the first germline <i>BRCA1</i> variant causing pseudoexon activation in a patient with breast/ovarian cancerGemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, et al.
Breast Cancer Research and Treatment|December 16, 2018
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>TLaura Duran-Lozano, Gemma Montalban, Sandra Bonache, et al.
Breast Cancer Research and Treatment|March 22, 2012
Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their originGorka Ruiz de Garibay, Sara Gutiérrez-Enríquez, Pilar Garre, et al.
Journal of Cancer Research and Clinical Oncology|October 12, 2018
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findingsSandra Bonache, Irene Esteban, Alejandro Moles-Fernández, et al.
Journal of Medical Genetics|February 5, 2022
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct <i>NF1</i> pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?Belen Garcia, Nuria Catasus, Andrea Ros, et al.
NPJ Breast Cancer|September 10, 2021
Clinical consequences of BRCA2 hypomorphismLaia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, et al.
Pageof 3