| Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to … LR Ranganath, AM Milan, AT Hughes, JJ Dutton, R Fitzgerald, MC Briggs, ... Annals of the Rheumatic Diseases 75 (2), 362-367, 2016 | 173 | 2016 |
| An update on molecular genetics of Alkaptonuria (AKU) A Zatkova Journal of inherited metabolic disease 34, 1127-1136, 2011 | 131 | 2011 |
| Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma A Zatkova, JM Rouillard, W Hartmann, BJ Lamb, R Kuick, M Eckart, ... Genes, Chromosomes and Cancer 39 (2), 126-137, 2004 | 131 | 2004 |
| Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 A Zatkova, L Messiaen, I Vandenbroucke, R Wieser, C Fonatsch, ... Human mutation 24 (6), 491-501, 2004 | 128 | 2004 |
| High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots A Zatková, DBV de Bernabé, H Poláková, M Zvarík, E Feráková, V Bošák, ... The American Journal of Human Genetics 67 (5), 1333-1339, 2000 | 120 | 2000 |
| Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’in Italy M Nemethova, J Radvanszky, L Kadasi, DB Ascher, DEV Pires, ... European Journal of Human Genetics 24 (1), 66-72, 2016 | 108 | 2016 |
| RNA‐based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference J Etzler, A Peyrl, A Zatkova, HU Schildhaus, A Ficek, S Merkelbach‐Bruse, ... Human mutation 29 (2), 299-305, 2008 | 95 | 2008 |
| Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial LR Ranganath, EE Psarelli, JB Arnoux, D Braconi, M Briggs, A Bröijersén, ... The Lancet Diabetes & Endocrinology 8 (9), 762-772, 2020 | 85 | 2020 |
| Homogentisate 1, 2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU DB Ascher, O Spiga, M Sekelska, DEV Pires, A Bernini, M Tiezzi, ... European Journal of Human Genetics 27 (6), 888-902, 2019 | 72 | 2019 |
| Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database A Zatkova, T Sedlackova, J Radvansky, H Polakova, M Nemethova, ... JIMD Reports-Case and Research Reports, 2012/1, 55-65, 2011 | 65 | 2011 |
| Alkaptonuria: current perspectives A Zatkova, L Ranganath, L Kadasi The application of clinical genetics, 37-47, 2020 | 58 | 2020 |
| GAB2 is a novel target of 11q amplification in AML/MDS A Zatkova, C Schoch, F Speleman, B Poppe, C Mannhalter, C Fonatsch, ... Genes, Chromosomes and Cancer 45 (9), 798-807, 2006 | 57 | 2006 |
| Rapid detection methods for five HGO gene mutations causing alkaptonuria A Zatkova, A Chmelikova, H Polakova, E Ferakova, L Kadasi Clinical genetics 63 (2), 145-149, 2003 | 42 | 2003 |
| Clustering of mutations in the 5’tertile of the NF1 gene in Slovakia patients with optic pathway glioma * A. BOLCEKOVA1,*, M. NEMETHOVA2 , A. ZATKOVA2 , K. HLINKOVA3 , S ... Neoplasma 60 (6), 655-663, 2013 | 41 | 2013 |
| Distinct sequences on 11q13.5 and 11q23–24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients A Zatkova, R Ullmann, JM Rouillard, BJ Lamb, R Kuick, SM Hanash, ... Genes, Chromosomes and Cancer 39 (4), 263-276, 2004 | 39 | 2004 |
| AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes A Zatkova, S Merk, M Wendehack, M Bilban, EM Muzik, A Muradyan, ... Genes, Chromosomes and Cancer 48 (6), 510-520, 2009 | 37 | 2009 |
| Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients M Nemethova, A Bolcekova, D Ilencikova, D Durovcikova, K Hlinkova, ... Annals of human genetics 77 (5), 364-379, 2013 | 32 | 2013 |
| Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence S Sakthivel, A Zatkova, M Nemethova, M Surovy, L Kadasi, ... Annals of Human Genetics 78 (3), 155-164, 2014 | 30 | 2014 |
| ApreciseKUre: an approach of precision medicine in a rare disease O Spiga, V Cicaloni, A Bernini, A Zatkova, A Santucci BMC Medical Informatics and Decision Making 17, 1-5, 2017 | 27 | 2017 |
| Novel mutations in the homogentisate-1, 2-dioxygenase gene identified in Slovak patients with alkaptonuria A Zatkova, H Polakova, L Micutkova, M Zvarik, V Bošák, E Ferakova, ... Journal of Medical Genetics 37 (7), 539-542, 2000 | 27 | 2000 |
