Kolexia
Tinat Julie
Génétique médicale
Hôpital Pellegrin
Bordeaux, France
47 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Prédisposition génétique à une maladie Tumeurs du sein Tumeurs colorectales Tumeurs de l'ovaire Tumeurs colorectales héréditaires sans polypose Polypose adénomateuse colique Instabilité des microsatellites Tumeurs du cerveau Syndromes néoplasiques héréditaires

Industries

AstraZeneca
1 collaboration(s)
Dernière en 2021
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

LUCID: Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
Essai Clinique (Institut Universitaire du Cancer Toulouse Oncopole)   28 février 2024
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
Clinical phenotype of Noonan syndrome due to RRAS2 mutations: 6 new cases and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
EXOCARE: An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
Essai Clinique (CHU Angers)   09 novembre 2023
First clinical description of a pedigree with complete deletion.
Leukemia & lymphoma   23 novembre 2022
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency.
Journal of medical genetics   21 novembre 2022
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
Digestive diseases and sciences   31 octobre 2022
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.
Journal of human genetics   12 janvier 2022
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
American journal of human genetics   30 septembre 2021
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast cancer research : BCR   03 août 2021