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List of works by Karolina Antosik

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes

scientific article published on 11 December 2019

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

scientific article published on 29 September 2016

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.

scientific article published in January 2016

An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).

scientific article published on 9 December 2016

An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome

scientific article published on 01 January 2010

Ancestral mutations may cause a significant proportion of GCK-MODY

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene

scientific article published in January 2015

Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome

scientific article

Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening

scientific article published on 15 May 2020

Endothelial integrity may be regulated by a specific antigen via an IgE-mediated mechanism

scientific article published on 2 March 2017

Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period

scientific article

Genetic Factors of Diabetes

scientific article published on 12 January 2017

HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.

scientific article

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level

scientific article published on 19 February 2014

Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program.

scientific article published on 24 April 2017

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance

scientific article published on 29 October 2020

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage

scientific article published on 20 June 2020

Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes

scientific article published on 01 January 2011

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

scientific article

Retinal thinning as a marker of disease progression in patients with Wolfram syndrome

scientific article published on 01 March 2015

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

scientific article published on 21 May 2021

Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

scientific article published on 12 September 2017

Serum tumor necrosis factor-α and interleukin-10 levels as markers to predict outcome of patients with chronic lymphocytic leukemia in different risk groups defined by the IGHV mutation status

scientific article published on 04 September 2012

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

scientific article published on 30 June 2015

The influence of INS VNTR class III allele on auxological parameters, glucose, insulin, lipids, and adipocytokines secretion in prepubertal children born small for gestational age.

scientific article published in January 2016

[Optimization of monogenic diabetes screening programme--initial report on recruitment efficacy of the TEAM project]

scientific article published on 01 January 2010

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