Kolexia
Legrand Clementine
Biologie médicale
Hôpital Nord Grenoble
La Tronche, France
20 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Prédisposition génétique à une maladie Tumeurs colorectales héréditaires sans polypose Tumeurs du sein Tumeurs colorectales Genetic Risk Score Tumeurs de l'endomètre Lymphome composite Infertilité masculine Anodontie

Industries

AstraZeneca
8 collaboration(s)
Dernière en 2023
MSD
1 collaboration(s)
Dernière en 2020
Lilly
1 collaboration(s)
Dernière en 2022
Janssen
1 collaboration(s)
Dernière en 2020

Dernières activités

COVAR: Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling
Essai Clinique (Institut Curie)   16 janvier 2024
From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.
Molecular genetics & genomic medicine   23 juin 2023
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes, chromosomes & cancer   21 décembre 2022
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.
Familial cancer   29 novembre 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications biology   06 octobre 2022
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.
European journal of medical genetics   23 décembre 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
American journal of human genetics   30 septembre 2021
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genetics in medicine : official journal of the American College of Medical Genetics   10 juin 2021
Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl Transferase: a case report.
Journal of medical case reports   27 juillet 2020
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nature communications   15 février 2018