K. Antosik

发表

Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome

M. Borowiec, B. Małkowski, W. Młynarski, 2014, PloS one.

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

M. Borowiec, M. Chałubiński, M. Broncel, 2017, Postepy higieny i medycyny doswiadczalnej.

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

M. Borowiec, W. Młynarski, A. Krętowski, 2017, Journal of proteome research.

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

M. Borowiec, W. Młynarski, K. Wyka, 2015, Endokrynologia Polska.

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

M. Borowiec, K. Kotulska, S. Jóźwiak, 2016, Orphanet Journal of Rare Diseases.

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

M. Borowiec, M. Małecki, W. Młynarski, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Paternally Inherited Proinsulin Mutations May Result in Earlier Onset of Monogenic Diabetes Mutation Identity Effect in Monogenic Diabetes

M. Borowiec, M. Małecki, W. Młynarski, 2011, Diabetes Care.

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

M. Borowiec, W. Młynarski, A. Zmysłowska, 2020, Genes.

Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program

M. Borowiec, M. Małecki, W. Młynarski, 2018, Pediatric diabetes.

Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome

M. Borowiec, W. Młynarski, A. Szadkowska, 2015, Diabetes Care.

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

M. Borowiec, W. Młynarski, I. Pietrzak, 2016, Pediatric endocrinology, diabetes, and metabolism.

Novel glucokinase mutations in patients with monogenic diabetes – clinical outline of GCK‐MD and potential for founder effect in Slavic population

M. Borowiec, M. Małecki, W. Młynarski, 2012, Clinical genetics.

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

M. Borowiec, M. Małecki, W. Młynarski, 2011, Acta Diabetologica.

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

M. Borowiec, O. Grzybowska-Izydorczyk, W. Młynarski, 2012, Archivum Immunologiae et Therapiae Experimentalis.

Genetic Factors of Diabetes

M. Borowiec, K. Antosik, Karolina Antosik, 2016, Archivum Immunologiae et Therapiae Experimentalis.

Wolfram syndrome in the Polish population: novel mutations and genotype–phenotype correlation

M. Borowiec, M. Szalecki, W. Młynarski, 2011, Clinical endocrinology.

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

M. Borowiec, W. Młynarski, W. Fendler, 2019, Pediatric diabetes.

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

S. Ellard, M. Borowiec, E. De Franco, 2015, Acta Diabetologica.

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

M. Borowiec, A. Zmysłowska, K. Antosik, 2021, Endocrine.

Genetic evaluation of patients with Alström syndrome in the Polish population

M. Borowiec, M. Krawczyński, R. Płoski, 2016, Clinical genetics.

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.

M. Borowiec, M. Pietrusiński, K. Antosik, 2020, European journal of obstetrics, gynecology, and reproductive biology.

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

M. Borowiec, W. Młynarski, A. Szadkowska, 2010, Pediatric endocrinology, diabetes, and metabolism.

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

M. Banach, M. Borowiec, M. Małecki, 2014, Acta Diabetologica.

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

M. Borowiec, A. Lewiński, W. Młynarski, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

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

Tomasz Płoszaj, Karolina Antosik, Paulina Młudzik, 2020, Comput. Methods Programs Biomed..

Ancestral mutations may cause a significant proportion of GCK‐MODY

M. Borowiec, W. Młynarski, O. Cinek, 2012, Pediatric diabetes.

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

J. Skupień, M. Borowiec, M. Małecki, 2011, Clinical endocrinology.

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.

M. Borowiec, A. Lewiński, W. Młynarski, 2016, Endokrynologia Polska.