Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients … J Bertherat, A Horvath, L Groussin, S Grabar, S Boikos, L Cazabat, R Libe, ... The Journal of Clinical Endocrinology & Metabolism 94 (6), 2085-2091, 2009 | 455 | 2009 |
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia A Horvath, S Boikos, C Giatzakis, A Robinson-White, L Groussin, ... Nature genetics 38 (7), 794-800, 2006 | 344 | 2006 |
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 | 336 | 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 | 310 | 2014 |
RNA sequencing of cancer reveals novel splicing alterations J Eswaran, A Horvath, S Godbole, SD Reddy, P Mudvari, K Ohshiro, ... Scientific reports 3 (1), 1-12, 2013 | 226 | 2013 |
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and … CA Stratakis, MA Tichomirowa, S Boikos, MF Azevedo, M Lodish, ... Clinical genetics 78 (5), 457-463, 2010 | 225 | 2010 |
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 | 200 | 2010 |
Mutation in PDE8B, a Cyclic AMP–Specific Phosphodiesterase in Adrenal Hyperplasia A Horvath, V Mericq, CA Stratakis New England Journal of Medicine 358 (7), 750-752, 2008 | 189 | 2008 |
Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH? P Xekouki, K Pacak, M Almeida, CA Wassif, P Rustin, M Nesterova, ... The Journal of Clinical Endocrinology & Metabolism 97 (3), E357-E366, 2012 | 180 | 2012 |
A PRKAR1A Mutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds L Groussin, A Horvath, E Jullian, S Boikos, F Rene-Corail, H Lefebvre, ... The Journal of Clinical Endocrinology & Metabolism 91 (5), 1943-1949, 2006 | 138 | 2006 |
Ochratoxin A concentrations in food and feed from a region with Balkan Endemic Nephropathy MM Abouzied, AD Horvath, PM Podlesny, NP Regina, VD Metodiev, ... Food Additives & Contaminants 19 (8), 755-764, 2002 | 135 | 2002 |
Analysis of genomes and transcriptomes of hepatocellular carcinomas identifies mutations and gene expression changes in the transforming growth factor-β pathway J Chen, S Zaidi, S Rao, JS Chen, L Phan, P Farci, X Su, K Shetty, J White, ... Gastroenterology 154 (1), 195-210, 2018 | 133 | 2018 |
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 | 121 | 2011 |
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex A Horvath, C Giatzakis, K Tsang, E Greene, P Osorio, S Boikos, R Libè, ... European Journal of Human Genetics 16 (10), 1245-1253, 2008 | 121 | 2008 |
Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the … A Horvath, C Giatzakis, A Robinson-White, S Boikos, E Levine, K Griffin, ... Cancer research 66 (24), 11571-11575, 2006 | 121 | 2006 |
(2010) LS Pereira, FJ Hes, A Horvath, S Woortman, E Greene, E Bimpaki El riego y sus tecnologías. Albacete, España: Ed. Centro Regional de …, 2010 | 120 | 2010 |
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors R Libé, A Fratticci, J Coste, F Tissier, A Horvath, B Ragazzon, ... Clinical Cancer Research 14 (12), 4016-4024, 2008 | 120 | 2008 |
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors A Horvath, CA Stratakis Reviews in Endocrine and Metabolic Disorders 9, 1-11, 2008 | 120 | 2008 |
Large Deletions of the PRKAR1A Gene in Carney Complex A Horvath, I Bossis, C Giatzakis, E Levine, F Weinberg, E Meoli, ... Clinical Cancer Research 14 (2), 388-395, 2008 | 115 | 2008 |
Detection of somatic β‐catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD) M Tadjine, A Lampron, L Ouadi, A Horvath, CA Stratakis, I Bourdeau Clinical Endocrinology 69 (3), 367-373, 2008 | 107 | 2008 |