Theo Charnay
Marseille, France
Last Updated: 09/26/2026
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Found 11 publications
Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.
Journal: Hormone research in paediatrics
Published: February 09, 2026
Pituitary developmental gene defects and their contribution to growth hormone deficiency.
Journal: Annales d'endocrinologie
Published: February 05, 2026
From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
Journal: Pituitary
Published: October 05, 2025
Histological Evidence of familial GH-PitNET Associated with Germline MAX Mutation.
Journal: European journal of endocrinology
Published: September 30, 2025
Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability?
Journal: Annales d'endocrinologie
Published: November 18, 2024
Challenges in molecular diagnosis of multiple endocrine neoplasia.
Journal: Frontiers in endocrinology
Published: June 07, 2024
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Journal: Frontiers in endocrinology
Published: October 26, 2022
Platelet-Rich Plasma Injections vs Placebo for Patients With Ankle Osteoarthritis.
Journal: JAMA
Published: February 22, 2022
A novel SUPT5H variant associated with a beta-thalassaemia trait.
Journal: British journal of haematology
Published: September 22, 2021
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 01, 2020
Troponins in scuba divers with immersion pulmonary edema.
Journal: Bioscience reports
Published: June 26, 2018
Showing 1-11 of 11
Last Updated: 09/26/2026