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Novel insights into genetics and clinics of the HNF1A-MODY

Endocrine regulations (Bratislava), 2019-04, Vol.53 (2), p.110-134

2019

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Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

Scientific reports, 2021-11, Vol.11 (1), p.22488-11, Article 22488

2021

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Mitochondria and mitochondrial disorders: an overview update

Endocrine regulations (Bratislava), 2022-07, Vol.56 (3), p.232-248

2022

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Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors

Scientific reports, 2023-04, Vol.13 (1), p.6790-6790, Article 6790

2023

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.92-92, Article 92

2023

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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

BMC pediatrics, 2021-12, Vol.21 (1), p.578-578, Article 578

2021

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

BMC medical genetics, 2019-05, Vol.20 (1), p.84-84, Article 84

2019

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Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

PloS one, 2017-05, Vol.12 (5), p.e0177222-e0177222

2017

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Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-222, Article 222

2020

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Clinical implications of the glucokinase impaired function - GCK MODY today

Physiological research, 2020, Vol.69 (6), p.995-1011

2020

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Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants

Endocrine regulations (Bratislava), 2020-10, Vol.54 (4), p.260-265

2020

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Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

Genes, 2023-12, Vol.14 (12), p.2174

2023

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Immunologic phenotype of a child with the MEHMO syndrome

Physiological research, 2020-11, Vol.69 (5), p.927-932

2020

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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine regulations (Bratislava), 2018-04, Vol.52 (2), p.110-118

2018

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Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements

The journal of clinical endocrinology and metabolism, 2008-06, Vol.93 (6), p.2255-2262

2008

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Protein Array Reveals Differentially Expressed Proteins in Subcutaneous Adipose Tissue in Obesity

Obesity (Silver Spring, Md.), 2007-10, Vol.15 (10), p.2396-2406

2007

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An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY

Diabetic medicine, 2024-05, Vol.41 (5), p.e15265-e15265

2024

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PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology

Neurology. Genetics, 2023-12, Vol.9 (6), p.e200106-e200106

2023

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De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Diabetologia, 2014-03, Vol.57 (3), p.480-484

2014

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Variant c.2158-2AG in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Orphanet journal of rare diseases, 2020-08, Vol.15 (1)

2020

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Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

Journal of molecular neuroscience, 2019-04, Vol.67 (4), p.559-563

2019

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Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome

International journal of pediatric otorhinolaryngology, 2021-01, Vol.140, p.110499-110499, Article 110499

2021

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DNM1 encephalopathy − atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

Seizure (London, England), 2018-03, Vol.56, p.31-33

2018

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Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation

Diabetes research and clinical practice, 2017-04, Vol.126, p.144-150

2017

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Novel insights into genetics and clinics of the HNF1A-MODY

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

Mitochondria and mitochondrial disorders: an overview update

Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Clinical implications of the glucokinase impaired function - GCK MODY today

Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

Immunologic phenotype of a child with the MEHMO syndrome

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements

Protein Array Reveals Differentially Expressed Proteins in Subcutaneous Adipose Tissue in Obesity

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Variant c.2158-2AG in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome

DNM1 encephalopathy − atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation

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