J. Stanik

发表

Clinical implications of the glucokinase impaired function - GCK MODY today.

J. Hulin, M. Skopkova, T. Valkovicova, 2020, Physiological research.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

M. Skopkova, D. Gašperíková, J. Stanik, 2016, European journal of medical genetics.

Dynamic alterations in linear growth and endocrine parameters in children with obesity and height reference values

J. Stanik, A. Körner, W. Kiess, 2021, EClinicalMedicine.

Novel insights into genetics and clinics of the HNF1A-MODY

M. Skopkova, T. Valkovicova, D. Gašperíková, 2019, Endocrine regulations.

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

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

Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity Onset Diabetes of the Young.

K. Owen, D. Gašperíková, J. Stanik, 2022, Diabetes research and clinical practice.

Associations Between Anxiety, Body Mass Index, and Sex Hormones in Women

J. Sacher, J. Stanik, T. Luck, 2019, Front. Psychiatry.

Increasing incidence of type 1 diabetes mellitus in young children in Slovakia.

J. Stanik, Ľ. Podracká, L. Barák, 2020, Bratislavske lekarske listy.

Testosterone imbalance may link depression and increased body weight in premenopausal women

A. Villringer, J. Sacher, J. Stanik, 2019, Translational Psychiatry.

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

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2017, Human mutation.

Risk factors of post-surgery complications in children with thyroid cancer.

J. Stanik, J. Babala, Z. Pribilincová, 2019, International journal of pediatric otorhinolaryngology.

Increased estrogen level can be associated with depression in males

J. Stanik, T. Luck, S. Riedel-Heller, 2018, Psychoneuroendocrinology.

Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity

D. Gašperíková, J. Stanik, A. Körner, 2017, PloS one.

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

D. Gašperíková, J. Stanik, I. Klimeš, 2017, Physiological research.

Lack of Association Between Peripheral Activity of Thyroid Hormones and Elevated TSH Levels in Childhood Obesity

J. Stanik, D. Staníková, O. Červeňová, 2014, Journal of clinical research in pediatric endocrinology.

The Bone Markers Sclerostin, Osteoprotegerin, and Bone-Specific Alkaline Phosphatase Are Related to Insulin Resistance in Children and Adolescents, Independent of Their Association with Growth and Obesity

J. Stanik, J. Thiery, A. Körner, 2019, Hormone Research in Paediatrics.

Food preferences and thyroid hormones in children and adolescents with obesity

J. Stanik, J. Ukropec, B. Ukropcová, 2022, Frontiers in Psychiatry.

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

M. McCarthy, T. Hansen, O. Pedersen, 2011, Diabetologia.

The Bright Side of Skin Autofluorescence Determination in Children and Adolescents with Newly Diagnosed Type 1 Diabetes Mellitus: A Potential Predictor of Remission?

J. Stanik, Ľ. Podracká, K. Šebeková, 2022, International journal of environmental research and public health.

Postinitial remission in children with type 1 diabetes mellitus

J. Stanik, Ľ. Podracká, L. Barák, 2022, Česko-slovenská pediatrie.

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes

F. Ashcroft, A. Hattersley, S. Ellard, 2008, Diabetes Care.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Physiological research.

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro

S. Ellard, L. Harries, G. Ryffel, 2010, Diabetic medicine : a journal of the British Diabetic Association.

Sulfonylurea vs insulin therapy in individuals with sulfonylurea‐sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Diabetic medicine : a journal of the British Diabetic Association.

Melanocortin-4 receptor gene mutations in obese Slovak children.

M. Skopkova, D. Gašperíková, J. Stanik, 2015, Physiological research.

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

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

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.

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

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

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

J. Stanik, P. Kovacs, G. Aust, 2016, Molecular metabolism.

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.

Immunologic phenotype of a child with the MEHMO syndrome.

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

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.

Serum Uric Acid Levels as an Indicator for Metabolically Unhealthy Obesity in Children and Adolescents

J. Stanik, A. Körner, W. Kiess, 2018, Hormone Research in Paediatrics.

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.

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.

Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children

J. Stanik, A. Körner, W. Kiess, 2022, Adipocyte.

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.

Lack of Association Between Peripheral Activity of Thyroid Hormones and Elevated TSH Levels in Childhood Obesity

J. Stanik, D. Staníková, O. Červeňová, 2014, Journal of clinical research in pediatric endocrinology.

Fasting indices of glucose-insulin-metabolism across life span and prediction of glycemic deterioration in children with obesity from new diagnostic cut-offs

H. Snieder, J. Stanik, A. Tönjes, 2023, The Lancet regional health. Europe.

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.