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Page 1
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: faucz fr. Endocr Relat Cancer. 2017 Aug;24(8):379-392. doi: 10.1530/ERC-17-0131. Epub 2017 May 22. Endocr Relat Cancer. 2017. PMID: 28533356 Free PMC article.
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: faucz fr. Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23. Cancer Res. 2009. PMID: 19549888 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.
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.
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.
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.
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.
149 results