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Marta Pineda

Showing results (121-130 of 150) with videos related to

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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 24, 2022
A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women With Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control SetsChiara Herzog, Fátima Marín, Allison Jones, et al.
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.
The Lancet. Public Health|September 24, 2025
Changes in use and utilisation patterns of drugs with reported shortages between 2010 and 2024 in Europe and North America: a network cohort studyMarta Pineda-Moncusí, Alexandros Rekkas, Álvaro Martínez Pérez, et al.
Gastroenterology|June 9, 2015
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA RepairNuria Seguí, Leonardo B Mina, Conxi Lázaro, et al.
Journal of Medical Genetics|September 9, 2019
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersMaribel González-Acosta, Fátima Marín, Benjamin Puliafito, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Journal of Personalized Medicine|July 27, 2022
An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot StudyPaula Peremiquel-Trillas, Sonia Paytubi, Beatriz Pelegrina, et al.
Gut|December 15, 2015
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.
Gut|June 5, 2016
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.
Pageof 15

Showing results (121-130 of 150) with videos related to

Sort By:
Pageof 15
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 24, 2022
A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women With Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control SetsChiara Herzog, Fátima Marín, Allison Jones, et al.
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.
The Lancet. Public Health|September 24, 2025
Changes in use and utilisation patterns of drugs with reported shortages between 2010 and 2024 in Europe and North America: a network cohort studyMarta Pineda-Moncusí, Alexandros Rekkas, Álvaro Martínez Pérez, et al.
Gastroenterology|June 9, 2015
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA RepairNuria Seguí, Leonardo B Mina, Conxi Lázaro, et al.
Journal of Medical Genetics|September 9, 2019
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersMaribel González-Acosta, Fátima Marín, Benjamin Puliafito, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Journal of Personalized Medicine|July 27, 2022
An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot StudyPaula Peremiquel-Trillas, Sonia Paytubi, Beatriz Pelegrina, et al.
Gut|December 15, 2015
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.
Gut|June 5, 2016
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databasePål Møller, Toni Seppälä, Inge Bernstein, et al.
Pageof 15