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Page 1
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.
Long-term weight gain in children with craniopharyngioma.
Rovani S, Butler V, Samara-Boustani D, Pinto G, Gonzalez-Briceno L, Nguyen Quoc A, Vermillac G, Stoupa A, Besançon A, Beltrand J, Thalassinos C, Flechtner I, Dassa Y, Viaud M, Arrom-Branas MB, Boddaert N, Puget S, Blauwblomme T, Alapetite C, Bolle S, Doz F, Grill J, Dufour C, Bourdeaut F, Abbou S, Guerrini-Rousseau L, Leruste A, Beccaria K, Polak M, Kariyawasam D. Rovani S, et al. Among authors: stoupa a. Eur J Endocrinol. 2024 May 2;190(5):363-373. doi: 10.1093/ejendo/lvae044. Eur J Endocrinol. 2024. PMID: 38662730
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
Lévy R, Escudier A, Bastard P, Briand C, Polivka L, Stoupa A, Talbotec C, Rothenbuhler A, Charbit M, Debray D, Bodemer C, Casanova JL, Linglart A, Neven B. Lévy R, et al. Among authors: stoupa a. J Clin Immunol. 2023 Dec 19;44(1):5. doi: 10.1007/s10875-023-01629-x. J Clin Immunol. 2023. PMID: 38112858 Free PMC article.
Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.
Didier-Mathon H, Stoupa A, Kariyawasam D, Yde S, Cochant-Priollet B, Groussin L, Sébag F, Cagnard N, Nitschke P, Luton D, Polak M, Carré A. Didier-Mathon H, et al. Among authors: stoupa a. Front Endocrinol (Lausanne). 2023 Oct 27;14:1286747. doi: 10.3389/fendo.2023.1286747. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37964961 Free PMC article.
Identifying patient-related predictors of permanent growth hormone deficiency.
Mericq V, Iñiguez G, Pinto G, Gonzalez-Briceño LG, Samara-Boustani D, Thalassinos C, Flechtner I, Stoupa A, Beltrand J, Besançon A, Brabant S, Ghazal K, Leban M, Touraine P, Cavada G, Polak M, Kariyawasam D. Mericq V, et al. Among authors: stoupa a. Front Endocrinol (Lausanne). 2023 Oct 10;14:1270845. doi: 10.3389/fendo.2023.1270845. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37881494 Free PMC article.
31 results