Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing
Płoszaj, Tomasz, Antosik, Karolina, Jakiel, Paulina, Zmysłowska, Agnieszka, Borowiec, Maciej
Published in Endocrine (01.09.2021)
Published in Endocrine (01.09.2021)
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Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome
Zmyslowska, Agnieszka, Malkowski, Bogdan, Fendler, Wojciech, Borowiec, Maciej, Antosik, Karolina, Gnys, Piotr, Baranska, Dobromila, Mlynarski, Wojciech
Published in PloS one (26.12.2014)
Published in PloS one (26.12.2014)
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Journal Article
Genetic Factors of Diabetes
Antosik, Karolina, Borowiec, Maciej
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2016)
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2016)
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Book Review
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
Jeziorny, Krzysztof, Antosik, Karolina, Jakiel, Paulina, Młynarski, Wojciech, Borowiec, Maciej, Zmysłowska, Agnieszka
Published in Genes (01.11.2020)
Published in Genes (01.11.2020)
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Retinal thinning as a marker of disease progression in patients with Wolfram syndrome
Zmyslowska, Agnieszka, Fendler, Wojciech, Niwald, Anna, Ludwikowska-Pawlowska, Malgorzata, Borowiec, Maciej, Antosik, Karolina, Szadkowska, Agnieszka, Mlynarski, Wojciech
Published in Diabetes care (01.03.2015)
Published in Diabetes care (01.03.2015)
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Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Trelinska, Joanna, Fendler, Wojciech, Dachowska, Iwona, Kotulska, Katarzyna, Jozwiak, Sergiusz, Antosik, Karolina, Gnys, Piotr, Borowiec, Maciej, Mlynarski, Wojciech
Published in Orphanet journal of rare diseases (29.09.2016)
Published in Orphanet journal of rare diseases (29.09.2016)
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Journal Article
Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome
Zmyslowska, Agnieszka, Ciborowski, Michal, Borowiec, Maciej, Fendler, Wojciech, Pietrowska, Karolina, Parfieniuk, Ewa, Antosik, Karolina, Pyziak, Aleksandra, Waszczykowska, Arleta, Kretowski, Adam, Mlynarski, Wojciech
Published in Journal of proteome research (03.11.2017)
Published in Journal of proteome research (03.11.2017)
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Journal Article
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
Chrzanowska - Steglińska, Marta, Moczulska, Hanna, Skoczylas, Beata, Pietrusiński, Michał, Antosik, Karolina, Jakiel, Paulina, Kacprzak, Marta, Borowiec, Maciej, Sieroszewski, Piotr
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2020)
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2020)
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Journal Article
A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes
Sztromwasser, Paweł, Michalak, Arkadiusz, Małachowska, Beata, Młudzik, Paulina, Antosik, Karolina, Hogendorf, Anna, Zmysłowska, Agnieszka, Borowiec, Maciej, Młynarski, Wojciech, Fendler, Wojciech
Published in Pediatric diabetes (01.05.2020)
Published in Pediatric diabetes (01.05.2020)
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Journal Article
Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program
Małachowska, Beata, Borowiec, Maciej, Antosik, Karolina, Michalak, Arkadiusz, Baranowska‐Jaźwiecka, Anna, Deja, Grażyna, Jarosz‐Chobot, Przemysława, Brandt, Agnieszka, Myśliwiec, Małgorzata, Stelmach, Małgorzata, Nazim, Joanna, Peczyńska, Jadwiga, Głowińska‐Olszewska, Barbara, Horodnicka‐Józwa, Anita, Walczak, Mieczysław, Małecki, Maciej T., Zmysłowska, Agnieszka, Szadkowska, Agnieszka, Fendler, Wojciech, Młynarski, Wojciech
Published in Pediatric diabetes (01.02.2018)
Published in Pediatric diabetes (01.02.2018)
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Journal Article
Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
Fendler, Wojciech, Rizzo, Manfredi, Borowiec, Maciej, Malachowska, Beata, Antosik, Karolina, Szadkowska, Agnieszka, Banach, Maciej, Urbanska-Kosinska, Malgorzata, Szopa, Magdalena, Malecki, Maciej, Mlynarski, Wojciech
Published in Acta diabetologica (01.08.2014)
Published in Acta diabetologica (01.08.2014)
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Journal Article
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology
Antosik, Karolina, Gnys, Piotr, De Franco, Elisa, Borowiec, Maciej, Mysliwiec, Malgorzata, Ellard, Sian, Mlynarski, Wojciech
Published in Acta diabetologica (01.04.2016)
Published in Acta diabetologica (01.04.2016)
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Journal Article
Monogenic diabetes prevalence among Polish children--Summary of 11years-long nationwide genetic screening program
Maachowska, Beata, Borowiec, Maciej, Antosik, Karolina, Michalak, Arkadiusz, Baranowska-Jawiecka, Anna, Deja, Grayna, Jarosz-Chobot, Przemysawa, Brandt, Agnieszka, Myliwiec, Magorzata, Stelmach, Magorzata, Nazim, Joanna, Peczyska, Jadwiga, Gowiska-Olszewska, Barbara, Horodnicka-Jozwa, Anita, Walczak, Mieczysaw, Maecki, Maciej T, Zmysowska, Agnieszka, Szadkowska, Agnieszka, Fendler, Wojciech, Mynarski, Wojciech
Published in Pediatric diabetes (01.02.2018)
Published in Pediatric diabetes (01.02.2018)
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Journal Article
Endothelial integrity may be regulated by a specific antigen via an IgE-mediated mechanism
Gorzelak-Pabis, Paulina, Luczak, Emilia, Wojdan, Katarzyna, Antosik, Karolina, Borowiec, Maciej, Broncel, Marlena, Chalubinski, Maciej
Published in Postȩpy higieny i medycyny doświadczalnej (02.03.2017)
Published in Postȩpy higieny i medycyny doświadczalnej (02.03.2017)
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Journal Article
Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report
Hogendorf, Anna, Pietrzak, Iwona, Antosik, Karolina, Borowiec, Maciej, Młynarski, Wojciech
Published in Pediatric endocrinology, diabetes, and metabolism (2016)
Published in Pediatric endocrinology, diabetes, and metabolism (2016)
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Journal Article
Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene
Borowiec, Maciej, Mysliwiec, Malgorzata, Fendler, Wojciech, Antosik, Karolina, Brandt, Agnieszka, Malecki, Maciej, Mlynarski, Wojciech
Published in Acta diabetologica (01.09.2011)
Published in Acta diabetologica (01.09.2011)
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Journal Article
HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults
Fendler, Wojciech, Borowiec, Maciej, Antosik, Karolina, Szadkowska, Agnieszka, Deja, Grazyna, Jarosz-Chobot, Przemyslawa, Mysliwiec, Malgorzata, Wyka, Krystyna, Pietrzak, Iwona, Skupien, Jan, Malecki, Maciej T., Mlynarski, Wojciech
Published in Clinical endocrinology (Oxford) (01.09.2011)
Published in Clinical endocrinology (Oxford) (01.09.2011)
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An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
Antosik, Karolina, Gnyś, Piotr, Jarosz-Chobot, Przemysława, Myśliwiec, Małgorzata, Szadkowska, Agnieszka, Małecki, Maciej, Młynarski, Wojciech, Borowiec, Maciej
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2017)
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Journal Article
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes
Fendler, Wojciech, Borowiec, Maciej, Antosik, Karolina, Jaroszewska-Swiatek, Beata, Szwalkiewicz-Warowicka, Ewa, Malecki, Maciej, Mysliwiec, Malgorzata, Mlynarski, Wojciech
Published in Diabetes care (01.01.2011)
Published in Diabetes care (01.01.2011)
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