Publications by authors named "Denisa Ilencikova"

30Publications

Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report.

Front Pediatr 2020 27;8:72. Epub 2020 Feb 27.

Department of Paediatrics, Medical School, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.

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February 2020

Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

Nefrologia 2020 May - Jun;40(3):351-355. Epub 2019 Dec 18.

Department of Pediatrics of the Faculty of Medicine, Comenius University and the National Institute of Children's Diseases, Bratislava, Slovakia; Department of Medical Genetics, Kepler University Hospital, Linz, Austria.

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December 2019

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Seizure 2018 03 3;56:31-33. Epub 2018 Feb 3.

Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address:

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March 2018

Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.

Clin Immunol 2017 10 10;183:41-45. Epub 2017 Jul 10.

Immunology Outpatient Clinic, Vienna, Austria; Sigmund Freud Private University - Medical School, Vienna, Austria. Electronic address:

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October 2017

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

Gen Physiol Biophys 2017 Apr 2;36(2):205-210. Epub 2017 Feb 2.

Department of Molecular Biology, Comenius University, Faculty of Natural Sciences, Mlynska dolina, Ilkovicova 6, 842 15 Bratislava, Slovakia.

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April 2017

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.

Gen Physiol Biophys 2016 Jul 5;35(3):333-42. Epub 2016 Apr 5.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynska dolina Bratislava, 842 15 Slovak Republic.

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July 2016

High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders.

Hum Mutat 2015 Feb;36(2):250-9

Research Group Human Genomics, Department of Biomedicine, University of Basel, Basel, Switzerland; Medical Genetics, University Hospital Basel, Basel, Switzerland; The Wellcome Trust Centre for Human Genetics, University of Oxford, Old Road Campus, Oxford, UK.

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February 2015

Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.

JOP 2014 Jan 10;15(1):49-52. Epub 2014 Jan 10.

Second Department of Pediatrics, Comenius University Medical School, University Children's Hospital. Bratislava, Slovakia.

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January 2014

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Ann Hum Genet 2013 Sep 12;77(5):364-79. Epub 2013 Jun 12.

Laboratory of Genetics, Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.

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September 2013

Evaluation of 2-year experience with EGFR mutation analysis of small diagnostic samples.

Diagn Mol Pathol 2013 Jun;22(2):70-5

Department of Cancer Genetics, National Cancer Institute, Faculty of Medicine, Comenius University, Bratislava, Slovakia.

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June 2013

High-grade brain tumors in siblings with biallelic MSH6 mutations.

Pediatr Blood Cancer 2011 Dec 14;57(6):1067-70. Epub 2011 Jun 14.

2nd Pediatric Department of Children University Hospital, Comenius University, Bratislava, Slovakia.

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December 2011