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CYP11B1 variants influence skeletal maturation via alternative splicing.
Grgic O, Gazzara MR, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Shevroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F. Grgic O, et al. Among authors: faucz fr. Commun Biol. 2021 Nov 9;4(1):1274. doi: 10.1038/s42003-021-02774-y. Commun Biol. 2021. PMID: 34754074 Free PMC article.
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA. Horvath A, et al. Among authors: faucz fr. Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178. Hum Mutat. 2010. PMID: 20358582 Free PMC article.
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA. Faucz FR, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E135-40. doi: 10.1210/jc.2010-1655. Epub 2010 Sep 29. J Clin Endocrinol Metab. 2011. PMID: 20881257 Free PMC article.
Adrenal cortex and micro-RNAs: An update.
Faucz FR, Stratakis CA. Faucz FR, et al. Cell Cycle. 2010 Oct;9(20):4039-40. doi: 10.4161/cc.9.20.13626. Epub 2010 Oct 13. Cell Cycle. 2010. PMID: 20980809 Free PMC article. No abstract available.
Adrenal cortex and micro-RNAs: an update.
Faucz FR, Stratakis CA. Faucz FR, et al. Cell Cycle. 2010 Oct 15;9(20):4039-40. Cell Cycle. 2010. PMID: 21058423 No abstract available.
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Rothenbuhler A, et al. Among authors: faucz fr. Clin Endocrinol (Oxf). 2012 Aug;77(2):195-9. doi: 10.1111/j.1365-2265.2012.04366.x. Clin Endocrinol (Oxf). 2012. PMID: 22335482 Free PMC article.
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Azevedo MF, et al. Among authors: faucz fr. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771924 Free PMC article.
Primary Aldosteronism and ARMC5 Variants.
Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R, Kebebew E, Bertherat J, Lodish MB, Stratakis CA. Zilbermint M, et al. Among authors: faucz fr. J Clin Endocrinol Metab. 2015 Jun;100(6):E900-9. doi: 10.1210/jc.2014-4167. Epub 2015 Mar 30. J Clin Endocrinol Metab. 2015. PMID: 25822102 Free PMC article.
150 results