Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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.
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
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.
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.
27 results