A. Zaťková

发表

L. Kádasi, L. Ranganath, A. Zaťková, 2020, The application of clinical genetics.

Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients

A. Bolčeková, M. Némethová, K. Hlinkova, 2013, Annals of human genetics.

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

A. Zatkova, A. Bolčeková, M. Némethová, 2013, Neoplasma.

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

A. Krainer, R. Wieser, I. Vandenbroucke, 2004, Human mutation.

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.

C. Fauth, J. Hainfellner, H. Kehrer-Sawatzki, 2009, European journal of medical genetics.

Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.

A. Zatkova, J. Benetin, M. Baldovič, 2013, General physiology and biophysics.

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Ludevit Kadasi, Andrea Zatkova, M. Némethová, 2012, JIMD reports.

An update on molecular genetics of Alkaptonuria (AKU)

A. Zatkova, A. Zaťková, 2011, Journal of Inherited Metabolic Disease.

RNA‐based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

J. Hainfellner, A. Attarbaschi, L. Messiaen, 2008, Human mutation.

Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma

R. Kuick, S. Hanash, J. Rouillard, 2004, Genes, chromosomes & cancer.

GAB2 is a novel target of 11q amplification in AML/MDS

F. Speleman, C. Schoch, K. Wimmer, 2006, Genes, chromosomes & cancer.

Distinct sequences on 11q13.5 and 11q23–24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients

R. Kuick, J. Rouillard, S. Schnittger, 2004, Genes, chromosomes & cancer.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Ludevit Kadasi, Jan Radvanszky, Andrea Zatkova, 2015, European Journal of Human Genetics.

Rapid detection methods for five HGO gene mutations causing alkaptonuria

L. Kádasi, H. Poláková, E. Feráková, 2003, Clinical genetics.

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

V. Ferák, S. R. Córdoba, S. D. de Córdoba, 2000, American journal of human genetics.

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

L. Ranganath, R. Imrich, J. Rovenský, 2022, RMD Open.

Genetics of alkaptonuria – an overview

M. Némethová, A. Zaťková, 2015 .

Molecular Genetics of Alkaptonuria

A. Zaťková, 2013 .

Genetic background of alkaptonuria, a prototypic inborn error of metabolism affectingconnective tissues

A. Zatkova, L. Kádasi, J. Radvanszky, 2012 .

Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).

Z. Gucev, V. Tasic, A. Zatkova, 2011, Prilozi.

Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

V. Ferák, H. Poláková, E. Feráková, 2000, Journal of medical genetics.

Analysis of the Phenotype Differences in Siblings with Alkaptonuria

L. Ranganath, R. Imrich, B. Olsson, 2022, Metabolites.

Alkaptonuria in Russia

A. Kuzin, E. Samarkina, A. Soltysova, 2021, European Journal of Human Genetics.

Alkaptonuria in Russia

A. Kuzin, E. Samarkina, A. Soltysova, 2021, European Journal of Human Genetics.

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria afte

Andrea Zatkova, Annalisa Santucci, Daniela Braconi, 2014, Annals of the rheumatic diseases.

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

J. Královičová, D. Ascher, L. Ranganath, 2019, European Journal of Human Genetics.

Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.

J. Jarvis, L. Ranganath, B. Olsson, 2020, The lancet. Diabetes & endocrinology.

Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

M. P. Saravanan, M. Némethová, L. Kádasi, 2014, Annals of human genetics.

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria

J. Jarvis, A. Zatkova, L. Ranganath, 2020, Journal of inherited metabolic disease.

ApreciseKUre: an approach of Precision Medicine in a Rare Disease

Andrea Bernini, Ottavia Spiga, Vittoria Cicaloni, 2017, BMC Medical Informatics and Decision Making.

AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes

T. Haferlach, C. Haferlach, K. Wimmer, 2009, Genes, chromosomes & cancer.

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

A. Bolčeková, L. Kádasi, D. Ilencikova, 2017, General physiology and biophysics.

A patient with de novo AML M1 and t(16;21) with karyotype evolution.

C. Fonatsch, P. Valent, W. Sperr, 2007, Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis.

once daily nitisinone on 24-hour urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment

Martina, J. Jarvis, L. Ranganath, 2015 .

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations

O. Pös, T. Szemeš, G. Minárik, 2022, bioRxiv.

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

J. Královičová, D. Ascher, L. Ranganath, 2019, European Journal of Human Genetics.

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

D. Glavač, M. Sendtner, V. Ferák, 2000 .

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

D. Glavač, V. Ferák, M. Ravnik-Glavač, 2000 .

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

D. Glavač, V. Ferák, M. Ravnik-Glavač, 2000 .

Nutritional interventions for patients with alkaptonuria: A minireview

R. Imrich, M. Vlcek, J. Sedlakova, 2023, Endocrine regulations.

Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).

Z. Gucev, D. Danilovski, N. Laban, 2011, Prilozi.