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Year Number of Results
2017 1
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2020 9
2021 8
2022 5
2023 3
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26 results

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Page 1
Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.
Faucz FR, Horvath AD, Assié G, Almeida MQ, Szarek E, Boikos S, Angelousi A, Levy I, Maria AG, Chitnis A, Antonescu CR, Claus R, Bertherat J, Plass C, Eng C, Stratakis CA. Faucz FR, et al. Endocr Relat Cancer. 2023 Sep 11;30(10):e230067. doi: 10.1530/ERC-23-0067. Print 2023 Oct 1. Endocr Relat Cancer. 2023. PMID: 37578265
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, Baussart B, Chittiboina P, Toro C, Gahl WA, Eugster EA, Naves LA, Jaffrain-Rea ML, de Herder WW, Neggers SJ, Petrossians P, Beckers A, Lania AG, Mains RE, Eipper BA, Stratakis CA. Trivellin G, et al. Front Endocrinol (Lausanne). 2023 Jun 14;14:1166076. doi: 10.3389/fendo.2023.1166076. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37388215 Free PMC article.
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, Baussart B, Chittiboina P, Toro C, Gahl WA, Eugster EA, Naves LA, Jaffrain-Rea ML, de Herder WW, Neggers SJ, Petrossians P, Beckers A, Lania AG, Mains RE, Eipper BA, Stratakis CA. Trivellin G, et al. medRxiv [Preprint]. 2023 Jan 20:2023.01.20.23284646. doi: 10.1101/2023.01.20.23284646. medRxiv. 2023. PMID: 36711613 Free PMC article. Updated. Preprint.
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Hernández-Ramírez LC, Pankratz N, Lane J, Faucz FR, Chittiboina P, Kay DM, Beethem Z, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Genet Med. 2022 Dec;24(12):2516-2525. doi: 10.1016/j.gim.2022.08.021. Epub 2022 Sep 23. Genet Med. 2022. PMID: 36149413 Free PMC article.
USP13 genetics and expression in a family with thyroid cancer.
Maria AG, Azevedo B, Settas N, Hannah-Shmouni F, Stratakis CA, Faucz FR. Maria AG, et al. Endocrine. 2022 Aug;77(2):281-290. doi: 10.1007/s12020-022-03068-x. Epub 2022 May 18. Endocrine. 2022. PMID: 35583846 Free PMC article.
Consensus on diagnosis and management of Cushing's disease: a guideline update.
Fleseriu M, Auchus R, Bancos I, Ben-Shlomo A, Bertherat J, Biermasz NR, Boguszewski CL, Bronstein MD, Buchfelder M, Carmichael JD, Casanueva FF, Castinetti F, Chanson P, Findling J, Gadelha M, Geer EB, Giustina A, Grossman A, Gurnell M, Ho K, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Kelly DF, Lacroix A, McCormack A, Melmed S, Molitch M, Mortini P, Newell-Price J, Nieman L, Pereira AM, Petersenn S, Pivonello R, Raff H, Reincke M, Salvatori R, Scaroni C, Shimon I, Stratakis CA, Swearingen B, Tabarin A, Takahashi Y, Theodoropoulou M, Tsagarakis S, Valassi E, Varlamov EV, Vila G, Wass J, Webb SM, Zatelli MC, Biller BMK. Fleseriu M, et al. Lancet Diabetes Endocrinol. 2021 Dec;9(12):847-875. doi: 10.1016/S2213-8587(21)00235-7. Epub 2021 Oct 20. Lancet Diabetes Endocrinol. 2021. PMID: 34687601 Free PMC article. Review.
26 results