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Page 1
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli F, Salgues B, Marjańska M, Laloi-Michelin M, Herman P, Le Collen L, Delemer B, Riancho J, Kuhn E, Jublanc C, Burnichon N, Amar L, Favier J, Gimenez-Roqueplo AP, Buffet A, Lussey-Lepoutre C. Branzoli F, et al. Endocr Relat Cancer. 2023 Jan 5;30(2):e220198. doi: 10.1530/ERC-22-0198. Print 2023 Feb 1. Endocr Relat Cancer. 2023. PMID: 36449569 Free PMC article.
Update on the genetics of paragangliomas.
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. Gimenez-Roqueplo AP, et al. Endocr Relat Cancer. 2023 Mar 8;30(4):e220373. doi: 10.1530/ERC-22-0373. Print 2023 Apr 1. Endocr Relat Cancer. 2023. PMID: 36748842 Free PMC article. Review.
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.
Droin-Mollard M, de Montgolfier S, Gimenez-Roqueplo AP, Flahault C, Petit A, Bourdeaut F, Julia S, Rial-Sebbag E, Coupier I, Simaga F, Brugières L, Guerrini-Rousseau L, Claret B, Cavé H, Strullu M, Hervouet L, Lahlou-Laforêt K. Droin-Mollard M, et al. Among authors: gimenez roqueplo ap. Eur J Hum Genet. 2024 Nov;32(11):1446-1455. doi: 10.1038/s41431-024-01653-4. Epub 2024 Jul 13. Eur J Hum Genet. 2024. PMID: 38997469 Free PMC article.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Mougel G, et al. Among authors: gimenez roqueplo ap. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Benn DE, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. doi: 10.1210/jc.2005-1862. Epub 2005 Nov 29. J Clin Endocrinol Metab. 2006. PMID: 16317055
248 results