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Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. van Trotsenburg P, et al. Among authors: stoupa a. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. Thyroid. 2021. PMID: 33272083 Free PMC article. Review.
Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?
Stoupa A, González-Briceño L, Pinto G, Samara-Boustani D, Thalassinos C, Flechtner I, Beltrand J, Bidet M, Simon A, Piketty M, Laborde K, Morel Y, Bellanné-Chantelot C, Touraine P, Polak M. Stoupa A, et al. Horm Res Paediatr. 2015;83(4):262-7. doi: 10.1159/000369901. Epub 2015 Feb 7. Horm Res Paediatr. 2015. PMID: 25677445
Update of Thyroid Developmental Genes.
Stoupa A, Kariyawasam D, Carré A, Polak M. Stoupa A, et al. Endocrinol Metab Clin North Am. 2016 Jun;45(2):243-54. doi: 10.1016/j.ecl.2016.01.007. Epub 2016 Apr 13. Endocrinol Metab Clin North Am. 2016. PMID: 27241962 Review.
Mutations in BOREALIN cause thyroid dysgenesis.
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Carré A, et al. Among authors: stoupa a. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419. Hum Mol Genet. 2017. PMID: 28025328 Free PMC article.
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Léger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carré A. Stoupa A, et al. EMBO Mol Med. 2018 Dec;10(12):e9569. doi: 10.15252/emmm.201809569. EMBO Mol Med. 2018. PMID: 30446499 Free PMC article.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: stoupa a. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
New genetics in congenital hypothyroidism.
Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A. Stoupa A, et al. Endocrine. 2021 Mar;71(3):696-705. doi: 10.1007/s12020-021-02646-9. Epub 2021 Mar 1. Endocrine. 2021. PMID: 33650047 Review.
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa A, Al Hage Chehade G, Chaabane R, Kariyawasam D, Szinnai G, Hanein S, Bole-Feysot C, Fourrage C, Nitschke P, Thalassinos C, Pinto G, Mnif M, Baron S, De Kerdanet M, Reynaud R, Barat P, Hachicha M, Belguith N, Polak M, Carré A. Stoupa A, et al. Front Endocrinol (Lausanne). 2021 Feb 22;11:545339. doi: 10.3389/fendo.2020.545339. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33692749 Free PMC article.
27 results