Kolexia
Richard Stephane
Anatomie et cytologie
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
93 Activités
0 Followers

Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Néphrocarcinome Tumeurs du rein Carcinomes Maladie de von Hippel-Lindau Prédisposition génétique à une maladie Hémangioblastome Hypoxie Polyglobulie Léiomyomatose

Industries

Pfizer
1 collaboration(s)
Dernière en 2020
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Dernières activités

DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection.
Biochimica et biophysica acta. Molecular basis of disease   29 février 2024
PRO-HEB: Efficacy of Propranolol for the Treatment of Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: a Randomized Controlled Clinical Trial
Essai Clinique (Assistance publique – Hôpitaux de Paris)   12 décembre 2023
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Journal of medical genetics   18 novembre 2023
Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.
Cancers   11 octobre 2022
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence.
European journal of human genetics : EJHG   02 août 2022
Preimplantation genetic testing in patients with genetic susceptibility to cancer.
Familial cancer   12 avril 2022
A novel germline pathogenic variant MET c.3389T>C p.(Leu1130Ser) identified in french population
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Specific phenotype of germline MET mutations in papillary renal cell carcinoma type 1: about a large french series of 158 patients
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Human mutation   19 janvier 2022
Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report.
Diagnostic pathology   20 novembre 2021