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Page 1
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: stoupa a. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
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.
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.
[Genetic of congenital hypothyroidism].
Stoupa A, Kariyawasam D, Polak M, Carré A. Stoupa A, et al. Med Sci (Paris). 2022 Mar;38(3):263-273. doi: 10.1051/medsci/2022028. Epub 2022 Mar 25. Med Sci (Paris). 2022. PMID: 35333163 Free article. French.
Genetics of congenital hypothyroidism: Modern concepts.
Stoupa A, Kariyawasam D, Polak M, Carré A. Stoupa A, et al. Pediatr Investig. 2022 May 14;6(2):123-134. doi: 10.1002/ped4.12324. eCollection 2022 Jun. Pediatr Investig. 2022. PMID: 35774517 Free PMC article. Review.
Approach to the Patient With Congenital Hypothyroidism.
Stoupa A, Kariyawasam D, Nguyen Quoc A, Polak M, Carré A. Stoupa A, et al. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3418-3427. doi: 10.1210/clinem/dgac534. J Clin Endocrinol Metab. 2022. PMID: 36107810
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.
30 results