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Page 1
Nonmalignant Adrenocorticotrophic Hormone-Independent Cushing's Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study.
Hassan M, Samara-Boustani D, Besançon A, Rothenbuhler A, Storey C, Pinto G, Stoupa A, Nicolino M, González-Briceño LG, Nguyen Quoc A, Vermillac G, Rovani S, Flechtner I, Thalassinos C, Dassa Y, Arrom Brañas MB, Viaud M, Beltrand J, Ribault V, Martinerie L, Linglart A, Bertherat J, Blanc T, Polak M, Kariyawasam D. Hassan M, et al. Among authors: stoupa a. Horm Res Paediatr. 2025 Mar 25:1-12. doi: 10.1159/000545265. Online ahead of print. Horm Res Paediatr. 2025. PMID: 40132568
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A See abstract for full author list ➔ Groeneweg S, et al. Among authors: stoupa a. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc AN, Hanein S, Rabeony T, Elie C, Colas S, Thalassinos C, Oliver-Petit I, Houang M, Coutant R, Barat P, Nicolino M, Reynaud R, de Kerdanet M, Signor CB, Baron S, Raynaud-Ravni C, Souchon PF, Léger J, Castanet M, Bole-Feysot C, Nitschke P, Lyonnet S, Polak M, Carré A. Stoupa A, et al. J Clin Endocrinol Metab. 2025 Jan 9:dgaf004. doi: 10.1210/clinem/dgaf004. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39787321
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Genet Med. 2024 Dec;26(12):101280. doi: 10.1016/j.gim.2024.101280. Epub 2024 Sep 21. Genet Med. 2024. PMID: 39315526 Free article.
36 results