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Anelia Horvath
Anelia Horvath
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Verifierad e-postadress på email.gwu.edu
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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
4352009
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
3352006
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
3232014
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
2842014
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
2202013
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
2162010
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
1952010
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
1782012
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
1762008
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
1372006
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
1352002
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
1212018
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
1212008
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
1212006
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
1172008
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
1152011
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
1152008
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
1142008
(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
1062010
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
1042008
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Artiklar 1–20