Publications by authors named "Karolina Antosik"

25Publications

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

Comput Methods Programs Biomed 2020 Oct 15;194:105529. Epub 2020 May 15.

Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland.

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http://dx.doi.org/10.1016/j.cmpb.2020.105529DOI Listing
October 2020

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

J Proteome Res 2017 11;16(11):4000-4008

Department of Pediatrics, Oncology, Hematology and Diabetology, ‡Department of Clinical Genetics, §Department of Biostatistics and Translational Medicine, and ⊥Department of Ophthalmology and Vision Rehabilitation, Medical University of Lodz , Lodz 91-738, Poland.

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http://dx.doi.org/10.1021/acs.jproteome.7b00401DOI Listing
November 2017

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

Postepy Hig Med Dosw (Online) 2017 Mar 2;71(0):162-169. Epub 2017 Mar 2.

Department of Internal Diseases and Clinical Pharmacology, The Laboratory of Tissue Immunopharmacology, Medical University of Lodz, Poland.

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http://dx.doi.org/10.5604/01.3001.0010.3800DOI Listing
March 2017

Genetic Factors of Diabetes.

Arch Immunol Ther Exp (Warsz) 2016 Dec 12;64(Suppl 1):157-160. Epub 2017 Jan 12.

Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213, Lodz, Poland.

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http://dx.doi.org/10.1007/s00005-016-0432-8DOI Listing
December 2016

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

Orphanet J Rare Dis 2016 Sep 29;11(1):129. Epub 2016 Sep 29.

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., Lodz, 91-738, Poland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041396PMC
http://dx.doi.org/10.1186/s13023-016-0512-1DOI Listing
September 2016

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

Pediatr Endocrinol Diabetes Metab 2016 ;22(2):71-75

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz.

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http://dx.doi.org/10.18544/PEDM-22.02.0054DOI Listing
November 2017

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

Acta Diabetol 2016 Apr 30;53(2):337-8. Epub 2015 Jun 30.

Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., 91-738, Lodz, Poland.

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http://link.springer.com/10.1007/s00592-015-0786-0
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http://dx.doi.org/10.1007/s00592-015-0786-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826403PMC
April 2016

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

Endokrynol Pol 2015 ;66(1):15-21

Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, Poland.

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http://dx.doi.org/10.5603/EP.2015.0004DOI Listing
January 2017

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

Diabetes Care 2015 Mar;38(3):e36-7

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland

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http://dx.doi.org/10.2337/dc14-1898DOI Listing
March 2015

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

Acta Diabetol 2014 Aug 19;51(4):625-32. Epub 2014 Feb 19.

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., 91-738, Lodz, Poland.

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http://dx.doi.org/10.1007/s00592-014-0567-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127439PMC
August 2014

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.

J Pediatr Endocrinol Metab 2013 ;26(5-6):457-62

Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

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http://dx.doi.org/10.1515/jpem-2012-0196DOI Listing
August 2013

Ancestral mutations may cause a significant proportion of GCK-MODY.

Pediatr Diabetes 2012 Sep 15;13(6):489-98. Epub 2012 Feb 15.

Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1111/j.1399-5448.2011.00845.xDOI Listing
September 2012

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

Acta Diabetol 2011 Sep 25;48(3):203-8. Epub 2011 Mar 25.

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Poland.

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http://dx.doi.org/10.1007/s00592-011-0279-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162147PMC
September 2011

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

Pediatr Endocrinol Diabetes Metab 2010 ;16(2):73-6

Klinika Pediatrii, Onkologii, Hematologii i Diabetologii Uniwersytetu Medycznego w Łodzi.

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October 2010

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

Pediatr Endocrinol Diabetes Metab 2010 ;16(4):233-7

Klinika Pediatrii, Katedry Pediatrii Uniwersytetu Medycznego w Lodzi.

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September 2011