| Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ... New England Journal of Medicine 370 (11), 1019-1028, 2014 | 414 | 2014 |
| Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation G Trivellin, AF Daly, FR Faucz, B Yuan, L Rostomyan, DO Larco, ... New England Journal of Medicine 371 (25), 2363-2374, 2014 | 334 | 2014 |
| Clinical and molecular genetics of the phosphodiesterases (PDEs) MF Azevedo, FR Faucz, E Bimpaki, A Horvath, I Levy, RB de Alexandre, ... Endocrine reviews 35 (2), 195-233, 2014 | 293 | 2014 |
| The gene of the ubiquitin-specific protease 8 is frequently mutated in adenomas causing Cushing's disease LG Perez-Rivas, M Theodoropoulou, F Ferraù, C Nusser, K Kawaguchi, ... The Journal of Clinical Endocrinology & Metabolism 100 (7), E997-E1004, 2015 | 205 | 2015 |
| Mutations and polymorphisms in the gene encoding regulatory subunit type 1‐alpha of protein kinase A (PRKAR1A): an update A Horvath, J Bertherat, L Groussin, M Guillaud‐Bataille, K Tsang, ... Human mutation 31 (4), 369-379, 2010 | 198 | 2010 |
| Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad F Haller, EA Moskalev, FR Faucz, S Barthelmeß, S Wiemann, M Bieg, ... Endocrine-related cancer 21 (4), 567-577, 2014 | 193 | 2014 |
| X-linked acrogigantism syndrome: clinical profile and therapeutic responses A Beckers, MB Lodish, G Trivellin, L Rostomyan, M Lee, FR Faucz, ... Endocrine-related cancer 22 (3), 353-367, 2015 | 182 | 2015 |
| Functional screen analysis reveals miR-26b and miR-128 as central regulators of pituitary somatomammotrophic tumor growth through activation of the PTEN–AKT pathway T Palumbo, FR Faucz, M Azevedo, P Xekouki, D Iliopoulos, CA Stratakis Oncogene 32 (13), 1651-1659, 2013 | 163 | 2013 |
| Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling DAS de Souza, FR Faucz, L Pereira‐Ferrari, VS Sotomaior, S Raskin Andrology 6 (1), 127-135, 2018 | 156 | 2018 |
| Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation FR Faucz, M Zilbermint, MB Lodish, E Szarek, G Trivellin, N Sinaii, ... The Journal of Clinical Endocrinology & Metabolism 99 (6), E1113-E1119, 2014 | 154 | 2014 |
| Carney complex CDC Kamilaris, FR Faucz, A Voutetakis, CA Stratakis Experimental and clinical endocrinology & diabetes 127 (02/03), 156-164, 2019 | 143 | 2019 |
| Frequent Phosphodiesterase 11A Gene (PDE11A) Defects in Patients with Carney Complex (CNC) Caused by PRKAR1A Mutations: PDE11A May Contribute to … R Libé, A Horvath, D Vezzosi, A Fratticci, J Coste, K Perlemoine, ... The Journal of Clinical Endocrinology & Metabolism 96 (1), E208-E214, 2011 | 116 | 2011 |
| Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease FR Faucz, A Tirosh, C Tatsi, A Berthon, LC Hernández-Ramírez, N Settas, ... The Journal of Clinical Endocrinology & Metabolism 102 (8), 2836-2843, 2017 | 105 | 2017 |
| Primary Aldosteronism and ARMC5 Variants M Zilbermint, P Xekouki, FR Faucz, A Berthon, A Gkourogianni, ... The Journal of Clinical Endocrinology & Metabolism 100 (6), E900-E909, 2015 | 104 | 2015 |
| Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds MA Tichomirowa, M Lee, A Barlier, AF Daly, I Marinoni, ML Jaffrain-Rea, ... Endocrine-Related Cancer 19 (3), 233-241, 2012 | 97 | 2012 |
| Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors A Horvath, L Korde, MH Greene, R Libe, P Osorio, FR Faucz, ... Cancer research 69 (13), 5301-5306, 2009 | 94 | 2009 |
| Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects AF Daly, B Yuan, F Fina, JH Caberg, G Trivellin, L Rostomyan, ... Endocrine-Related Cancer 23 (4), 221-233, 2016 | 92 | 2016 |
| Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries LF Azevedo, GD Pecharki, JA Brancher, CA Cordeiro Junior, ... Journal of Applied Oral Science 18, 166-170, 2010 | 88 | 2010 |
| Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease LC Hernández-Ramírez, R Gam, N Valdés, MB Lodish, N Pankratz, ... Endocrine-related cancer 24 (8), 379-392, 2017 | 79 | 2017 |
| Identification of novel genetic variants in phosphodiesterase 8B ( PDE8B ), a cAMP‐specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort … A Rothenbuhler, A Horvath, R Libé, FR Faucz, A Fratticci, ... Clinical endocrinology 77 (2), 195-199, 2012 | 74 | 2012 |
