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

Neoplasma, 2013-01, Vol.60 (6), p.655-665

2013

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

Human mutation, 2008-02, Vol.29 (2), p.299-305

2008

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Alkaptonuria: Current Perspectives

Application of clinical genetics, 2020-01, Vol.13, p.37-47

2020

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Rapid detection methods for five HGO gene mutations causing alkaptonuria

Clinical genetics, 2003-02, Vol.63 (2), p.145-149

2003

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Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour

European journal of medical genetics, 2009-11, Vol.52 (6), p.409-414

2009

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

Human mutation, 2004-12, Vol.24 (6), p.491-501

2004

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Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma

Genes chromosomes & cancer, 2004-02, Vol.39 (2), p.126-137

2004

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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

American journal of human genetics, 2000-11, Vol.67 (5), p.1333-1339

2000

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

Journal of medical genetics, 2000-07, Vol.37 (7), p.539-542

ZATKOVA, A

2000

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

Genes chromosomes & cancer, 2004-04, Vol.39 (4), p.263-276

2004

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

Prilozi - Makedonska akademija na naukite i umetnostite. Oddelenie za biološki i medicinski nauki, 2011, Vol.32 (1), p.305-311

2011

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Analysis of the SMN and NAIP Genes in Slovak Spinal Muscular Atrophy Patients

Human heredity, 2000-05, Vol.50 (3), p.171-174

2000

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Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2014-08, Vol.61 (1)

2014

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Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients

Gene geography : a computerized bulletin on human gene frequencies, 1997-04, Vol.11 (1), p.51

1997

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An update on molecular genetics of Alkaptonuria (AKU)

Journal of inherited metabolic disease, 2011-12, Vol.34 (6), p.1127-1136

Zatkova, Andrea

2011

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The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia

Bratislavské lékarské listy, 1998-01, Vol.99 (1), p.33-36

1998

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Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.485-489

2023

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Alkaptonuria in Russia

European journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.237-242

2022

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What psychosocial support do first year university students need? A mixed creative methods study

The international journal of emotional education, 2024-04, Vol.16 (1), p.140-153

2024

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Expression of synaptic proteins in the hippocampus is modulated by neonatal oxytocin treatment

Neuroscience letters, 2020-04, Vol.725, p.134912, Article 134912

2020

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The Role of Hypothalamic Neuropeptides in Neurogenesis and Neuritogenesis

Neural plasticity, 2016-01, Vol.2016 (2016), p.1-10

2016

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Activation of the Oxytocin Receptor Modulates the Expression of Synaptic Adhesion Molecules in a Cell-Specific Manner

Journal of molecular neuroscience, 2019-06, Vol.68 (2), p.171-180

2019

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

European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.888-902

2019

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Abnormalities in interactions of Rho GTPases with scaffolding proteins contribute to neurodevelopmental disorders

Journal of neuroscience research, 2018-05, Vol.96 (5), p.781-788

2018

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DISCOVERY-TECHNIQUE-BASED TEACHING IN SECONDARY VOCATIONAL EDUCATION

Slavonic Pedagogical Studies Journal (Online), 2022-02, Vol.11 (1), p.76-88

2022

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

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

Alkaptonuria: Current Perspectives

Rapid detection methods for five HGO gene mutations causing alkaptonuria

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour

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

Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

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

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

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

Analysis of the SMN and NAIP Genes in Slovak Spinal Muscular Atrophy Patients

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients

An update on molecular genetics of Alkaptonuria (AKU)

The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia

Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients

Alkaptonuria in Russia

What psychosocial support do first year university students need? A mixed creative methods study

Expression of synaptic proteins in the hippocampus is modulated by neonatal oxytocin treatment

The Role of Hypothalamic Neuropeptides in Neurogenesis and Neuritogenesis

Activation of the Oxytocin Receptor Modulates the Expression of Synaptic Adhesion Molecules in a Cell-Specific Manner

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

Abnormalities in interactions of Rho GTPases with scaffolding proteins contribute to neurodevelopmental disorders

DISCOVERY-TECHNIQUE-BASED TEACHING IN SECONDARY VOCATIONAL EDUCATION

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