| Year |
Citation |
Score |
| 2020 |
Słowiński P, Li M, Restrepo P, Alomran N, Spurr LF, Miller C, Tsaneva-Atanasova K, Horvath A. GeTallele: A Method for Analysis of DNA and RNA Allele Frequency Distributions. Frontiers in Bioengineering and Biotechnology. 8: 1021. PMID 33042959 DOI: 10.3389/Fbioe.2020.01021 |
0.442 |
|
| 2020 |
M PN, Liu H, Bousounis P, Spurr L, Alomran N, Ibeawuchi H, Sein J, Reece-Stremtan D, Horvath A. Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data. Genes. 11. PMID 32106453 DOI: 10.3390/Genes11030240 |
0.424 |
|
| 2019 |
Spurr L, Alomran N, Bousounis P, Reece-Stremtan D, Prashant NM, Liu H, Słowiński P, Li M, Zhang Q, Sein J, Asher G, Crandall KA, Tsaneva-Atanasova K, Horvath A. ReQTL: Identifying correlations between expressed SNVs and gene expression using RNA-sequencing data. Bioinformatics (Oxford, England). PMID 31589315 DOI: 10.1093/Bioinformatics/Btz750 |
0.427 |
|
| 2018 |
Spurr L, Li M, Alomran N, Zhang Q, Restrepo P, Movassagh M, Trenkov C, Tunnessen N, Apanasovich T, Crandall KA, Edwards N, Horvath A. Systematic pan-cancer analysis of somatic allele frequency. Scientific Reports. 8: 7735. PMID 29769535 DOI: 10.1038/S41598-018-25462-0 |
0.448 |
|
| 2017 |
Restrepo P, Movassagh M, Alomran N, Miller C, Li M, Trenkov C, Manchev Y, Bahl S, Warnken S, Spurr L, Apanasovich T, Crandall K, Edwards N, Horvath A. Overexpressed somatic alleles are enriched in functional elements in Breast Cancer. Scientific Reports. 7: 8287. PMID 28811643 DOI: 10.1038/S41598-017-08416-W |
0.49 |
|
| 2017 |
Wang BD, Ceniccola K, Hwang S, Andrawis R, Horvath A, Freedman JA, Olender J, Knapp S, Ching T, Garmire L, Patel V, Garcia-Blanco MA, Patierno SR, Lee NH. Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer. Nature Communications. 8: 15921. PMID 28665395 DOI: 10.1038/Ncomms15921 |
0.377 |
|
| 2017 |
Movassagh M, Mudvari P, Horvath A. Co-Occurrence of COMT and BRCA1/2 Variants in a Population. The New England Journal of Medicine. 376: 2090-2091. PMID 28538113 DOI: 10.1056/Nejmc1701592 |
0.71 |
|
| 2016 |
Movassagh M, Alomran N, Mudvari P, Dede M, Dede C, Kowsari K, Restrepo P, Cauley E, Bahl S, Li M, Waterhouse W, Tsaneva-Atanasova K, Edwards N, Horvath A. RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data. Nucleic Acids Research. PMID 27576531 DOI: 10.1093/Nar/Gkw757 |
0.685 |
|
| 2015 |
Shellman YG, Lambert KA, Brauweiler A, Fain P, Spritz RA, Martini M, Janssen KP, Box NF, Terzian T, Rewers M, Horvath A, Stratakis CA, Robinson WA, Robinson SE, Norris DA, et al. SASH1 is Involved in an Autosomal Dominant Lentiginous Phenotype. The Journal of Investigative Dermatology. PMID 26203640 DOI: 10.1038/Jid.2015.292 |
0.329 |
|
| 2015 |
de Alexandre RB, Horvath AD, Szarek E, Manning AD, Leal LF, Kardauke F, Epstein JA, Carraro DM, Soares FA, Apanasovich TV, Stratakis CA, Faucz FR. Phosphodiesterase sequence variants may predispose to prostate cancer. Endocrine-Related Cancer. 22: 519-30. PMID 25979379 DOI: 10.1530/Erc-15-0134 |
0.421 |
|
| 2015 |
Mudvari P, Movassagh M, Kowsari K, Seyfi A, Kokkinaki M, Edwards NJ, Golestaneh N, Horvath A. SNPlice: variants that modulate Intron retention from RNA-sequencing data. Bioinformatics (Oxford, England). 31: 1191-8. PMID 25481010 DOI: 10.1093/Bioinformatics/Btu804 |
0.715 |
|
| 2014 |
Azevedo MF, Faucz FR, Bimpaki E, Horvath A, Levy I, de Alexandre RB, Ahmad F, Manganiello V, Stratakis CA. Clinical and molecular genetics of the phosphodiesterases (PDEs). Endocrine Reviews. 35: 195-233. PMID 24311737 DOI: 10.1210/Er.2013-1053 |
0.367 |
|
| 2014 |
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, et al. Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. The Journal of Clinical Endocrinology and Metabolism. 99: E183-8. PMID 24170103 DOI: 10.1210/Jc.2013-3159 |
0.348 |
|
| 2014 |
Guillaud Bataille M, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, et al. Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. European Journal of Endocrinology / European Federation of Endocrine Societies. 170: 151-60. PMID 24144965 DOI: 10.1530/Eje-13-0740 |
0.384 |
|
| 2014 |
Movassagh M, Mudvari P, Kokkinaki M, Edwards NJ, Golestaneh N, Horvath A. Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform Journal of Clinical Bioinformatics. 4: 14. DOI: 10.1186/2043-9113-4-14 |
0.75 |
|
| 2013 |
Mudvari P, Kowsari K, Cole C, Mazumder R, Horvath A. Extraction of Molecular Features through Exome to Transcriptome Alignment. Journal of Metabolomics and Systems Biology. 1. PMID 24791251 DOI: 10.13188/2329-1583.1000002 |
0.718 |
|
| 2013 |
Mudvari P, Ohshiro K, Nair V, Horvath A, Kumar R. Genomic insights into triple-negative and HER2-positive breast cancers using isogenic model systems. Plos One. 8: e74993. PMID 24086418 DOI: 10.1371/Journal.Pone.0074993 |
0.714 |
|
| 2013 |
Motwani M, Li DQ, Horvath A, Kumar R. Identification of novel gene targets and functions of p21-activated kinase 1 during DNA damage by gene expression profiling. Plos One. 8: e66585. PMID 23950862 DOI: 10.1371/Journal.Pone.0066585 |
0.305 |
|
| 2013 |
Horvath A, Pakala SB, Mudvari P, Reddy SD, Ohshiro K, Casimiro S, Pires R, Fuqua SA, Toi M, Costa L, Nair SS, Sukumar S, Kumar R. Novel insights into breast cancer genetic variance through RNA sequencing. Scientific Reports. 3: 2256. PMID 23884293 DOI: 10.1038/Srep02256 |
0.754 |
|
| 2013 |
Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition. The Journal of Clinical Endocrinology and Metabolism. 98: E1393-400. PMID 23771924 DOI: 10.1210/Jc.2012-2838 |
0.368 |
|
| 2013 |
Eswaran J, Horvath A, Godbole S, Reddy SD, Mudvari P, Ohshiro K, Cyanam D, Nair S, Fuqua SA, Polyak K, Florea LD, Kumar R. RNA sequencing of cancer reveals novel splicing alterations. Scientific Reports. 3: 1689. PMID 23604310 DOI: 10.1038/Srep01689 |
0.739 |
|
| 2013 |
Hofland J, de Herder WW, Derks L, Hofland LJ, van Koetsveld PM, de Krijger RR, van Nederveen FH, Horvath A, Stratakis CA, de Jong FH, Feelders RA. Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. European Journal of Endocrinology / European Federation of Endocrine Societies. 168: 67-74. PMID 23065993 DOI: 10.1530/Eje-12-0594 |
0.32 |
|
| 2013 |
Kumar R, Horvath A, Mazumder R, Toi M, Sato F, Pillai MR, Costa L, Carmo-Fonseca M, Knapp S, Dutt A, Gupta S, Badwe R. The Global Cancer Genomics Consortium's Second Annual Symposium: Genomics Medicine in Cancer Research Genes and Cancer. 4: 196-200. DOI: 10.1177/1947601913484582 |
0.327 |
|
| 2012 |
Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. The Journal of Clinical Endocrinology and Metabolism. 97: E2063-9. PMID 22996146 DOI: 10.1210/Jc.2012-2275 |
0.356 |
|
| 2012 |
Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features. Journal of Pediatric Endocrinology & Metabolism : Jpem. 25: 213-9. PMID 22570980 DOI: 10.1515/Jpem.2011.371 |
0.333 |
|
| 2012 |
Tsigginou A, Bimpaki E, Nesterova M, Horvath A, Boikos S, Lyssikatos C, Papageorgiou C, Dimitrakakis C, Rodolakis A, Stratakis CA, Antsaklis A. PRKAR1A gene analysis and protein kinase A activity in endometrial tumors. Endocrine-Related Cancer. 19: 457-462. PMID 22461635 DOI: 10.1530/Erc-11-0328 |
0.399 |
|
| 2012 |
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours. Clinical Endocrinology. 77: 195-9. PMID 22335482 DOI: 10.1111/J.1365-2265.2012.04366.X |
0.367 |
|
| 2012 |
Xekouki P, Hatch MM, Lin L, Rodrigo de A, Azevedo M, de la Luz Sierra M, Levy I, Saloustros E, Moraitis A, Horvath A, Kebebew E, Hoffman DA, Stratakis CA. KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome. Endocrine-Related Cancer. 19: 255-60. PMID 22323562 DOI: 10.1530/Erc-12-0022 |
0.378 |
|
| 2012 |
Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA. Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. The Journal of Clinical Endocrinology and Metabolism. 97: E687-93. PMID 22259056 DOI: 10.1210/Jc.2011-3000 |
0.34 |
|
| 2012 |
Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA. In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex. The Journal of Clinical Endocrinology and Metabolism. 97: E496-502. PMID 22205709 DOI: 10.1210/Jc.2011-2220 |
0.367 |
|
| 2012 |
Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA. A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. The Journal of Clinical Endocrinology and Metabolism. 97: 351-9. PMID 22112814 DOI: 10.1210/Jc.2011-2244 |
0.408 |
|
| 2012 |
Saloustros E, Mertz E, Nesterova M, Keil M, Horvath A, Nadella K, Holmbeck K, Liu S, Mandas V, Shikha K, Leikin S, Robey P, Stratakis CA. Abstract 954: COX-2 inhibition reduces bone tumor growth in animal models:A role for celecoxib treatment in cAMP/protein kinase A-induced tumors Cancer Research. 72: 954-954. DOI: 10.1158/1538-7445.Am2012-954 |
0.332 |
|
| 2011 |
Levy I, Horvath A, Azevedo M, de Alexandre RB, Stratakis CA. Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment. Current Opinion in Pharmacology. 11: 689-97. PMID 22047791 DOI: 10.1016/J.Coph.2011.10.003 |
0.33 |
|
| 2011 |
Farrell WE, Azevedo MF, Batista DL, Smith A, Bourdeau I, Horvath A, Boguszewski M, Quezado M, Stratakis CA. Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma. The Journal of Clinical Endocrinology and Metabolism. 96: E1905-14. PMID 21917868 DOI: 10.1210/Jc.2011-1127 |
0.372 |
|
| 2011 |
Gaujoux S, Tissier F, Ragazzon B, Rebours V, Saloustros E, Perlemoine K, Vincent-Dejean C, Meurette G, Cassagnau E, Dousset B, Bertagna X, Horvath A, Terris B, Carney JA, Stratakis CA, et al. Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. The Journal of Clinical Endocrinology and Metabolism. 96: E1888-95. PMID 21900385 DOI: 10.1210/Jc.2011-1433 |
0.323 |
|
| 2011 |
Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, et al. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. The Journal of Clinical Endocrinology and Metabolism. 96: E208-14. PMID 21047926 DOI: 10.1210/Jc.2010-1704 |
0.385 |
|
| 2011 |
Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA. Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. The Journal of Clinical Endocrinology and Metabolism. 96: E135-40. PMID 20881257 DOI: 10.1210/jc.2010-1655 |
0.338 |
|
| 2010 |
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes Clinical Genetics. 78: 457-463. PMID 20507346 DOI: 10.1111/J.1399-0004.2010.01406.X |
0.334 |
|
| 2010 |
Horvath A, Faucz F, Finkielstain GP, Nikita ME, Rothenbuhler A, Almeida M, Mericq V, Stratakis CA. Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels. Thyroid : Official Journal of the American Thyroid Association. 20: 363-7. PMID 20373981 DOI: 10.1089/Thy.2009.0260 |
0.328 |
|
| 2010 |
Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Human Mutation. 31: 369-79. PMID 20358582 DOI: 10.1002/Humu.21178 |
0.416 |
|
| 2010 |
Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. The Journal of Clinical Endocrinology and Metabolism. 95: 338-42. PMID 19915019 DOI: 10.1210/Jc.2009-0993 |
0.321 |
|
| 2009 |
Horvath A, Stratakis C. Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes. Methods in Molecular Biology (Clifton, N.J.). 590: 143-63. PMID 19763502 DOI: 10.1007/978-1-60327-378-7_9 |
0.343 |
|
| 2009 |
Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, et al. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Research. 69: 5301-6. PMID 19549888 DOI: 10.1158/0008-5472.Can-09-0884 |
0.424 |
|
| 2009 |
Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein. Hormone and Metabolic Research. 41: 630-634. PMID 19391077 DOI: 10.1055/S-0029-1216358 |
0.412 |
|
| 2009 |
Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. The Journal of Clinical Endocrinology and Metabolism. 94: 2085-91. PMID 19293268 DOI: 10.1210/Jc.2008-2333 |
0.398 |
|
| 2008 |
Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 14: 4016-24. PMID 18559625 DOI: 10.1158/1078-0432.Ccr-08-0106 |
0.389 |
|
| 2008 |
Boikos SA, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney JA, Stratakis CA. Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. Hormone and Metabolic Research. 40: 347-353. PMID 18491255 DOI: 10.1055/S-2008-1076694 |
0.385 |
|
| 2008 |
Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA. 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. European Journal of Human Genetics : Ejhg. 16: 1245-53. PMID 18431404 DOI: 10.1038/Ejhg.2008.85 |
0.428 |
|
| 2008 |
Tadjine M, Lampron A, Ouadi L, Horvath A, Stratakis CA, Bourdeau I. Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). Clinical Endocrinology. 69: 367-73. PMID 18419788 DOI: 10.1111/J.1365-2265.2008.03273.X |
0.327 |
|
| 2008 |
Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. The New England Journal of Medicine. 358: 750-2. PMID 18272904 DOI: 10.1056/Nejmc0706182 |
0.328 |
|
| 2008 |
Horvath A, Stratakis CA. Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. Reviews in Endocrine & Metabolic Disorders. 9: 1-11. PMID 18200440 DOI: 10.1007/S11154-007-9066-9 |
0.337 |
|
| 2008 |
Nesterova M, Bossis I, Wen F, Horvath A, Matyakhina L, Stratakis CA. An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits. The Journal of Clinical Endocrinology and Metabolism. 93: 565-71. PMID 18056771 DOI: 10.1210/Jc.2007-1902 |
0.344 |
|
| 2007 |
Horvath A, Stratakis C. Primary pigmented nodular adrenocortical disease and Cushing's syndrome. Arquivos Brasileiros De Endocrinologia E Metabologia. 51: 1238-44. PMID 18209861 DOI: 10.1590/S0004-27302007000800009 |
0.304 |
|
| 2006 |
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Research. 66: 11571-5. PMID 17178847 DOI: 10.1158/0008-5472.Can-06-2914 |
0.445 |
|
| 2006 |
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics. 38: 794-800. PMID 16767104 DOI: 10.1038/Ng1809 |
0.423 |
|
| 2006 |
Robinson-White A, Meoli E, Stergiopoulos S, Horvath A, Boikos S, Bossis I, Stratakis CA. PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. The Journal of Clinical Endocrinology and Metabolism. 91: 2380-8. PMID 16569736 DOI: 10.1210/Jc.2006-0188 |
0.335 |
|
| 2006 |
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. The Journal of Clinical Endocrinology and Metabolism. 91: 1943-9. PMID 16464939 DOI: 10.1210/Jc.2005-2708 |
0.361 |
|
| 2006 |
Horvath A, Mathyakina L, Vong Q, Baxendale V, Pang AL, Chan WY, Stratakis CA. Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation. The Journal of Clinical Endocrinology and Metabolism. 91: 584-96. PMID 16278264 DOI: 10.1210/Jc.2005-1301 |
0.374 |
|
| 2001 |
Horvath A, Savov A, Kirov S, Karshelova E, Paskaleva I, Goudev A, Ganev V. High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects [4] Journal of Medical Genetics. 38: 536-540. PMID 11494965 DOI: 10.1136/Jmg.38.8.536 |
0.344 |
|
| 2001 |
Horvath A, Ganev V. The mutation APOB-100 R3500Q in Eastern Europe [2] Atherosclerosis. 156: 241-242. PMID 11417523 DOI: 10.1016/S0021-9150(01)00482-8 |
0.312 |
|
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