D. Gašperíková

D. Gašperíková, E. Šeböková, I. Klimeš, 2007, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Fatty acid regulation of gene expression: a genomic explanation for the benefits of the mediterranean diet.

D. Gašperíková, S. Clarke, A. Lapillonne, 2002, Annals of the New York Academy of Sciences.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, Human Genetics.

22nd European Congress on Obesity (ECO2015), Prague, Czech Republic, May 6-9, 2015: Abstracts

J. N. Fidalgo, Jimmy D Bell, L. S. Silveira, 2015, Obesity Facts.

High Lipid Levels in Slovak Rural Population Consequence of Thyroid Dysfunction or Nutritional Status? a

D. Gašperíková, P. Langer, M. Tajtáková, 1997, Annals of the New York Academy of Sciences.

High prevalence of prediabetes and diabetes in a population exposed to high levels of an organochlorine cocktail

D. Gašperíková, P. Langer, A. Kočan, 2010, Diabetologia.

Novel variants in EDNRB gene in waardenburg syndrome type II and SOX10 gene in PCWH syndrome.

M. Skopkova, D. Gašperíková, D. Danis, 2020, International journal of pediatric otorhinolaryngology.

Obesogenic and diabetogenic impact of high organochlorine levels (HCB, p,p'-DDE, PCBs) on inhabitants in the highly polluted Eastern Slovakia.

D. Gašperíková, P. Langer, A. Kočan, 2014, Endocrine regulations.

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

D. Gašperíková, J. Stanik, I. Klimeš, 2012, Endocrine regulations.

Phenotype and Genotype Comparison of Hereditary Hypertriglyceridemic (hHTG) and Brown‐Norway (BN) Rats Identification of Quantitative Trait Loci (QTLs) for the Insulin Resistance Syndrome a

N. Samani, D. Gašperíková, P. Kovacs, 1997, Annals of the New York Academy of Sciences.

Adipose tissue and skeletal muscle plasticity modulates metabolic health

D. Gašperíková, I. Klimeš, J. Ukropec, 2008, Archives of physiology and biochemistry.

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

Nicola L. Beer, Amy Barrett, Anna L. Gloyn, 2012, PloS one.

Dietary obesity-associated Hif1α activation in adipocytes restricts fatty acid oxidation and energy expenditure via suppression of the Sirt2-NAD+ system.

Wilhelm Krek, D. Gašperíková, Susann Kumpf, 2012, Genes & development.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2017, PloS one.

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

M. Skopkova, D. Gašperíková, P. Seeman, 2020, Orphanet Journal of Rare Diseases.

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

M. Skopkova, D. Gašperíková, P. Jungová, 2019, Journal of Molecular Neuroscience.

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

M. Skopkova, D. Gašperíková, P. Jungová, 2019, Journal of Molecular Neuroscience.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Kenneth L. Jones, A. Hattersley, S. Ellard, 2018, The lancet. Diabetes & endocrinology.

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

A. Hattersley, S. Ellard, J. Javorková, 2007, The Journal of clinical endocrinology and metabolism.

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

D. Gašperíková, I. Klimeš, I. Mašindová, 2014, Acta oto-laryngologica.

Immunologic phenotype of a child with the MEHMO syndrome.

M. Skopkova, D. Gašperíková, J. Stanik, 2020, Physiological research.

Effects of Hypoxia on Adipose Tissue Expression of NFκB, IκBα, IKKγ and IKAP in Patients with Chronic Obstructive Pulmonary Disease

I. Tkáč, D. Gašperíková, I. Klimeš, 2013, Cell Biochemistry and Biophysics.

Involvement of the chemokine-like receptor GPR33 in innate immunity.

T. Schöneberg, M. Stumvoll, D. Gašperíková, 2010, Biochemical and biophysical research communications.

Serum Afamin a Novel Marker of Increased Hepatic Lipid Content

D. Gašperíková, J. Ukropec, B. Ukropcová, 2021, Frontiers in Endocrinology.

Mapping of genetic loci predisposing to hypertriglyceridaemia in the hereditary hypertriglyceridaemic rat: analysis of genetic association with related traits of the insulin resistance syndrome

N. Samani, D. Jezova, J. Thompson, 2003, Diabetologia.

Diabetes treatment in two pregnant women with permanent neonatal diabetes mellitus due to a KCNJ11 mutation

M. Skopkova, T. Valkovicova, D. Gašperíková, 2020, Diabetic medicine : a journal of the British Diabetic Association.

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

M. Skopkova, M. Rosoľanková, D. Gašperíková, 2017, Diabetes research and clinical practice.

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

M. Skopkova, T. Valkovicova, D. Gašperíková, 2020, Endocrine regulations.

35th Annual meeting of the European Association for the Study of Diabetes. Brussels, Belgium, 28 September-2 October, 1999. Abstracts.

Thomas J. Smith, B. M. Rasmussen, V. C. Phan, 1999, Diabetologia.

Insulin Resistance in the Hereditary Hypertriglyceridemic Rat Is Associated with an Impairment of Δ‐6 Desaturase Expression in Liver

D. Gašperíková, E. Šeböková, I. Klimeš, 2002, Annals of the New York Academy of Sciences.

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, PloS one.

Transcriptional regulation of adipocyte formation by the liver receptor homologue 1 (Lrh1)-Small hetero-dimerization partner (Shp) network.

J. Auwerx, D. Gašperíková, B. Meissburger, 2013, Molecular metabolism.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2014, Diabetologia.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2023, Scientific reports.

Possible effects of persistent organochlorinated pollutants cocktail on thyroid hormone levels and pituitary-thyroid interrelations.

D. Gašperíková, P. Langer, A. Kočan, 2007, Chemosphere.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

D. Gašperíková, P. Seeman, L. Varga, 2021, Genes.

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications

D. Gašperíková, I. Klimeš, I. Mašindová, 2014, European Archives of Oto-Rhino-Laryngology.

Hereditary bilateral sudden sensorineural hearing loss.

D. Gašperíková, L. Varga, L. Demesova, 2019, Bratislavske lekarske listy.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, Human Genetics.

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Endocrine regulations.

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

Mark I. McCarthy, Pauline M. Rudd, Igor Rudan, 2013, Diabetes.

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2

E. Volpi, K. Elliott, S. Ellard, 2009, Diabetes.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2021, BMC Pediatrics.

Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements.

M. Skopkova, D. Gašperíková, M. Tajtáková, 2008, The Journal of clinical endocrinology and metabolism.

Mapping of genetic determinants of the sympathoneural response to stress.

N. Samani, R. Dixon, D. Jezova, 2005, Physiological genomics.

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans

J. Knight, S. Ellard, A. Gloyn, 2009, Diabetes.

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

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Seizure.

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

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2018, Yearbook of Paediatric Endocrinology.

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

M. Skopkova, D. Gašperíková, M. Tajtáková, 2008 .

Dietary obesity-associated Hif1α activation in adipocytes restricts fatty acid oxidation and energy expenditure via suppression of the Sirt2-NAD+ system.

D. Gašperíková, Susann Kumpf, W. Krek, 2012, Genes & development.

Delta-6 desaturase activity and gene expression, tissue fatty acid profile and glucose turnover rate in hereditary hypertriglyceridemic rats.

D. Gašperíková, I. Klimeš, J. Ukropec, 2001, Endocrine regulations.

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

D. Gašperíková, J. Stanik, Zuzana Dobiasova, 2023, Diabetic medicine : a journal of the British Diabetic Association.

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

D. Gašperíková, Denisa Weis, A. Ficek, 2023, Genes.

Comparison of the extrapancreatic action of gamma-linolenic acid and n-3 PUFAs in the high fat diet-induced insulin resistance [corrected].

D. Gašperíková, M. Čertík, I. Klimeš, 2002, Endocrine Regulations.