บทความที่มีข้อกำหนดการเข้าถึงสาธารณะ - Anelia Horvathดูข้อมูลเพิ่มเติม
ไม่มีให้ใช้งานในทุกที่: 5
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
ข้อกำหนด: National Institute of Health and Medical Research, France
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay
EL Greene, AD Horvath, M Nesterova, C Giatzakis, I Bossis, CA Stratakis
Human Mutation 29 (5), 633-639, 2008
ข้อกำหนด: US National Institutes of Health
Co-Occurrence of COMT and BRCA1/2 Variants in a Population
M Movassagh, P Mudvari, A Horvath
New England Journal of Medicine 376 (21), 2090-2091, 2017
ข้อกำหนด: US National Institutes of Health, American Heart Association
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A
SL Heyerdahl, S Boikos, A Horvath, C Giatzakis, I Bossis, CA Stratakis
Hormone and metabolic research 40 (06), 391-397, 2008
ข้อกำหนด: US National Institutes of Health
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.
RA Toledo, T Sekiya, A Horvath, F Faucz, MCBV Fragoso, VC Longuini, ...
Clinical endocrinology 76 (1), 2012
ข้อกำหนด: US National Institutes of Health
มีให้ใช้งานในบางที่: 74
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health, US Department of Veterans Affairs
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
ข้อกำหนด: US National Institutes of Health, National Institute of Health and Medical …
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health, National Institute of Health and Medical …
Dysregulated metabolic pathways in age-related macular degeneration
M Zhang, N Jiang, Y Chu, O Postnikova, R Varghese, A Horvath, ...
Scientific reports 10 (1), 2464, 2020
ข้อกำหนด: US National Institutes of Health
Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells
N Mukhamedova, A Hoang, D Dragoljevic, L Dubrovsky, T Pushkarsky, ...
PLoS Pathogens 15 (7), e1007907, 2019
ข้อกำหนด: US National Institutes of Health, American Heart Association, National …
Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer
BD Wang, K Ceniccola, SJ Hwang, R Andrawis, A Horvath, JA Freedman, ...
Nature communications 8 (1), 15921, 2017
ข้อกำหนด: US Department of Defense, US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
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
ข้อกำหนด: US National Institutes of Health
แหล่งที่มาและข้อมูลกองทุนดำเนินการโดยโปรแกรมคอมพิวเตอร์โดยอัตโนมัติ