Publications by authors named "Katalin Komlosi"

54Publications

Neonatal presentation of COG6-CDG with prominent skin phenotype.

JIMD Rep 2020 Sep 7;55(1):51-58. Epub 2020 Aug 7.

Institute of Human Genetics, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany.

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September 2020

Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis.

Curr Mol Med 2020 ;20(5):336-354

Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.

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January 2020

Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.

Pathol Oncol Res 2019 Oct 17;25(4):1349-1355. Epub 2018 Feb 17.

Department of Medical Genetics, University of Pecs, Medical School, Szigeti 12, Pecs, H-7624, Hungary.

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October 2019

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Orphanet J Rare Dis 2018 01 26;13(1):23. Epub 2018 Jan 26.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.

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January 2018

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

BMC Med Genet 2017 12 16;18(1):150. Epub 2017 Dec 16.

Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.

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December 2017

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

BMC Med Genet 2017 09 19;18(1):105. Epub 2017 Sep 19.

Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.

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September 2017

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

Mol Cytogenet 2016 25;9:22. Epub 2016 Feb 25.

Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.

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February 2016

[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].

Orv Hetil 2015 Dec;156(49):2009-12

Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, Szigeti út 12., 7624.

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December 2015

Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.

Mol Cytogenet 2015 25;8:41. Epub 2015 Jun 25.

Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.

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June 2015

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.

Mol Cytogenet 2015 3;8:16. Epub 2015 Mar 3.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti Street 12, Pecs, H-7624 Hungary.

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March 2015

[Genetic testing in hereditary spastic paraplegia].

Orv Hetil 2015 Jan;156(3):113-7

Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.

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January 2015

[Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report].

Orv Hetil 2014 Oct;155(40):1598-601

Pécsi Tudományegyetem, Általános Orvostudományi Kar Klinikai Központ, Orvosi Genetikai Intézet Pécs Szigeti út 12. 7624 Pécsi Tudományegyetem Szentágothai János Kutatóközpont Pécs.

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October 2014

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension.

Mol Cytogenet 2014 5;7:36. Epub 2014 Jun 5.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, Pecs H-7624, Hungary ; Szentágothai Research Centre, University of Pecs, Ifjusag 20, Pecs H-7624, Hungary.

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June 2014