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Sign in to add mentor| Anne-Paule Gimenez-Roqueplo | grad student | 2010 | Université Paris 5 | |
| (Caractérisation des altérations génétiques constitutionnelles et somatiques des phéochromocytomes / paragangliomes) | ||||
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Publications
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| Mancini M, Buffet A, Porte B, et al. (2024) EPAS1-mutated paragangliomas associated with haemoglobin disorders. British Journal of Haematology |
| 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 |
| 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 |