Anne-Paule Gimenez-Roqueplo
Affiliations: | Université Paris 5 |
Area:
PCC/PGL, SDHB, Malignancy, EMT, KRT19Google:
"Anne-Paule Gimenez-Roqueplo"Children
Sign in to add traineeNelly Burnichon | grad student | 2010 | Université Paris 5 |
Céline Loriot | grad student | 2014 | Université Paris 5 |
BETA: Related publications
See more...
Publications
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
Mougel G, Mohamed A, Burnichon N, et al. (2023) Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries. Journal of Medical Genetics |
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. (2023) Update on the genetics of paragangliomas. Endocrine-Related Cancer. 30 |
Karaghiannis V, Maric D, Garrec C, et al. (2023) Comprehensive and functional studies for classification of genetic variants identified in patients with erythrocytosis. Haematologica |
Branzoli F, Salgues B, Marjańska M, et al. (2022) SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link? Endocrine-Related Cancer |
Vibert R, Lahlou-Laforêt K, Samadi M, et al. (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 |
Garrett A, Loveday C, King L, et al. (2021) Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
Parisien-La Salle S, Dumas N, Bédard K, et al. (2021) Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time. Clinical Endocrinology |
Morini A, Drossart T, Timsit MO, et al. (2021) Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc |
Ben Aim L, Maher ER, Cascon A, et al. (2021) International initiative for a curated variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. Journal of Medical Genetics |
Amar L, Pacak K, Steichen O, et al. (2021) International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nature Reviews. Endocrinology |