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Marta Pineda

Showing results (51-60 of 150) with videos related to

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International Journal of Cancer|March 31, 2019
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panelsLídia Feliubadaló, Adrià López-Fernández, Marta Pineda, et al.
European Journal of Human Genetics : EJHG|January 26, 2012
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyMireia Gausachs, Pilar Mur, Julieta Corral, et al.
Scientific Reports|February 9, 2016
Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposisPilar Mur, Elena Sánchez-Cuartielles, Susanna Aussó, et al.
JBMR Plus|December 23, 2020
Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> LocusNúria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, et al.
The Journal of Molecular Diagnostics : JMD|June 8, 2024
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS DataElisabet Munté, Lídia Feliubadaló, Jesús Del Valle, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
The Journal of Molecular Diagnostics : JMD|October 4, 2020
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics GuidelinesPaula Rofes, Mireia Menéndez, Sara González, et al.
Journal of Medical Genetics|May 28, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsEster Borràs, Marta Pineda, Juan Cadiñanos, et al.
Gastroenterologia Y Hepatologia|June 14, 2023
Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortiumSabela Carballal, Francesc Balaguer, Luis Bujanda, et al.
Gut|October 1, 2020
<i>TP53</i>, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypesMariona Terradas, Pilar Mur, Sami Belhadj, et al.
Pageof 15

Showing results (51-60 of 150) with videos related to

Sort By:
Pageof 15
International Journal of Cancer|March 31, 2019
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panelsLídia Feliubadaló, Adrià López-Fernández, Marta Pineda, et al.
European Journal of Human Genetics : EJHG|January 26, 2012
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyMireia Gausachs, Pilar Mur, Julieta Corral, et al.
Scientific Reports|February 9, 2016
Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposisPilar Mur, Elena Sánchez-Cuartielles, Susanna Aussó, et al.
JBMR Plus|December 23, 2020
Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> LocusNúria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, et al.
The Journal of Molecular Diagnostics : JMD|June 8, 2024
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS DataElisabet Munté, Lídia Feliubadaló, Jesús Del Valle, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
The Journal of Molecular Diagnostics : JMD|October 4, 2020
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics GuidelinesPaula Rofes, Mireia Menéndez, Sara González, et al.
Journal of Medical Genetics|May 28, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsEster Borràs, Marta Pineda, Juan Cadiñanos, et al.
Gastroenterologia Y Hepatologia|June 14, 2023
Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortiumSabela Carballal, Francesc Balaguer, Luis Bujanda, et al.
Gut|October 1, 2020
<i>TP53</i>, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypesMariona Terradas, Pilar Mur, Sami Belhadj, et al.
Pageof 15