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Page 1
Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.
Piña JO, Raju R, Roth DM, Winchester EW, Chattaraj P, Kidwai F, Faucz FR, Iben J, Mitra A, Campbell K, Fridell G, Esnault C, Cotney JL, Dale RK, D'Souza RN. Piña JO, et al. Among authors: faucz fr. Nat Commun. 2023 Sep 14;14(1):5687. doi: 10.1038/s41467-023-41349-9. Nat Commun. 2023. PMID: 37709732 Free PMC article.
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.
Tichomirowa MA, Lee M, Barlier A, Daly AF, Marinoni I, Jaffrain-Rea ML, Naves LA, Rodien P, Rohmer V, Faucz FR, Caron P, Estour B, Lecomte P, Borson-Chazot F, Penfornis A, Yaneva M, Guitelman M, Castermans E, Verhaege C, Wémeau JL, Tabarin A, Fajardo Montañana C, Delemer B, Kerlan V, Sadoul JL, Cortet Rudelli C, Archambeaud F, Zacharieva S, Theodoropoulou M, Brue T, Enjalbert A, Bours V, Pellegata NS, Beckers A. Tichomirowa MA, et al. Among authors: faucz fr. Endocr Relat Cancer. 2012 May 3;19(3):233-41. doi: 10.1530/ERC-11-0362. Print 2012 Jun. Endocr Relat Cancer. 2012. PMID: 22291433 Free article.
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development.
Lodge EJ, Xekouki P, Silva TS, Kochi C, Longui CA, Faucz FR, Santambrogio A, Mills JL, Pankratz N, Lane J, Sosnowska D, Hodgson T, Patist AL, Francis-West P, Helmbacher F, Stratakis C, Andoniadou CL. Lodge EJ, et al. Among authors: faucz fr. JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. JCI Insight. 2020. PMID: 33108146 Free PMC article.
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: faucz fr. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Trivellin G, et al. Among authors: faucz fr. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. N Engl J Med. 2014. PMID: 25470569 Free PMC article.
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA. Libé R, et al. Among authors: faucz fr. J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3. J Clin Endocrinol Metab. 2011. PMID: 21047926 Free PMC article.
152 results