Gemma Aiza

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 18 publications

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Journal: European journal of human genetics : EJHG

Published: February 05, 2024

Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.

Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.

Journal: European journal of human genetics : EJHG

Published: October 31, 2023

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

Journal: European journal of human genetics : EJHG

Published: January 05, 2023

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Journal: Genes & diseases

Published: November 17, 2022

Wnt genes in colonic polyposis predisposition.

Wnt genes in colonic polyposis predisposition.

Journal: Genes & diseases

Published: October 03, 2022

Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer.

Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer.

Journal: Cancers

Published: January 17, 2022

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.

Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.

Journal: Cancers

Published: May 10, 2021

Molecular Nodal Restaging Based on CEACAM5, FGFR2b and PTPN11 Expression Adds No Relevant Clinical Information in Resected Non-Small Cell Lung Cancer.

Molecular Nodal Restaging Based on CEACAM5, FGFR2b and PTPN11 Expression Adds No Relevant Clinical Information in Resected Non-Small Cell Lung Cancer.

Journal: Journal of investigative surgery : the official journal of the Academy of Surgical Research

Published: December 21, 2020

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.

Journal: Human mutation

Published: October 22, 2019

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Journal: Human mutation

Published: March 04, 2019

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Journal: Human mutation

Published: April 03, 2018

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.

Journal: Molecular cancer

Published: September 14, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026