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List of works by Andrea Zatkova

A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria

scientific article published on 05 October 2018

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

scientific article

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

scientific article published in June 2009

Alkaptonuria: Current Perspectives

scientific article published on 23 January 2020

Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma

scientific article (publication date: February 2004)

An update on molecular genetics of Alkaptonuria (AKU)

scientific article published on July 1, 2011

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

scientific article published on March 1, 2013

ApreciseKUre: an approach of Precision Medicine in a Rare Disease.

scientific article

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

scientific article published on January 1, 2013

Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism

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

scientific article published in December 2004

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

scientific article published on April 2004

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

scientific article published on 18 August 2020

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

scientific article published on 01 September 2006

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

scientific article published on 08 February 2019

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

scientific article published on 14 October 2019

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

scientific article

Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence

scientific article

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

scientific article published on 04 December 2014

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

scientific article published on 2 February 2017

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients

scientific article published on 12 June 2013

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

scientific article published on 25 March 2015