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Page 1
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Bouys L, Vaczlavik A, Jouinot A, Vaduva P, Espiard S, Assié G, Libé R, Perlemoine K, Ragazzon B, Guignat L, Groussin L, Bricaire L, Cavalcante IP, Bonnet-Serrano F, Lefebvre H, Raffin-Sanson ML, Chevalier N, Touraine P, Jublanc C, Vatier C, Raverot G, Haissaguerre M, Maione L, Kroiss M, Fassnacht M, Christin-Maitre S, Pasmant E, Borson-Chazot F, Tabarin A, Vantyghem MC, Reincke M, Kamenicky P, North MO, Bertherat J. Bouys L, et al. Among authors: cavalcante ip. Eur J Endocrinol. 2022 May 24;187(1):123-134. doi: 10.1530/EJE-21-1032. Eur J Endocrinol. 2022. PMID: 35521700
KDM1A inactivation causes hereditary food-dependent Cushing syndrome.
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J. Vaczlavik A, et al. Among authors: cavalcante ip. Genet Med. 2022 Feb;24(2):374-383. doi: 10.1016/j.gim.2021.09.018. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906447 Free article.
The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.
Bouys L, Vaczlavik A, Cavalcante IP, Violon F, Jouinot A, Berthon A, Vaduva P, Espiard S, Perlemoine K, Kamenicky P, Vantyghem MC, Tabarin A, Raverot G, Ronchi CL, Dischinger U, Reincke M, Fragoso MC, Stratakis CA, Chansavang A, Pasmant E, Ragazzon B, Bertherat J; COMETE and ENSAT Networks. Bouys L, et al. Among authors: cavalcante ip. Orphanet J Rare Dis. 2025 Feb 5;20(1):51. doi: 10.1186/s13023-025-03554-1. Orphanet J Rare Dis. 2025. PMID: 39910635 Free PMC article. Review.
ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules.
Conceição BBD, Cavalcante IP, Kremer JL, Auricino TB, Bento EC, Zerbini MCN, Fragoso MCBV, Lotfi CFP. Conceição BBD, et al. Among authors: cavalcante ip. Arch Endocrinol Metab. 2020 Aug;64(4):390-401. doi: 10.20945/2359-3997000000236. Epub 2020 Apr 6. Arch Endocrinol Metab. 2020. PMID: 32267363 Free PMC article.
15 results