متابعة
Anelia Horvath
Anelia Horvath
انتساب غير معروف
بريد إلكتروني تم التحقق منه على email.gwu.edu
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
4412009
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
3422006
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
3272014
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
2902014
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
2222013
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
2212010
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
1972010
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
1812012
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
1802008
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
1382006
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
1362002
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
1222018
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
1222006
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
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
1192008
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
1182008
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
1162011
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
1152008
(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
1082010
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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مقالات 1–20