Publications by authors named "Katalin Szakszon"

24Publications

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

BMC Med Genet 2020 03 27;21(1):61. Epub 2020 Mar 27.

HAS-UD Vascular Biology and Myocardial Pathophysiology Research Group, Hungarian Academy of Sciences, 98, Nagyerdei krt, Debrecen, H-4032, Hungary.

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March 2020

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

J Biotechnol 2019 Aug 1;301:105-111. Epub 2019 Jun 1.

Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address:

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August 2019

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

J Biotechnol 2019 Jun 1;299:86-95. Epub 2019 May 1.

Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address:

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June 2019

Clinical and genetic characteristics of craniosynostosis in Hungary.

Am J Med Genet A 2015 Dec 20;167A(12):2985-91. Epub 2015 Aug 20.

Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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December 2015

KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.

Cancer Res 2015 Sep 24;75(18):3936-45. Epub 2015 Jul 24.

Cancer Epigenetics Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain. Department of Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Catalonia, Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.

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September 2015

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

Am J Med Genet A 2014 Dec 23;164A(12):3176-9. Epub 2014 Sep 23.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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December 2014

[Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)].

Orv Hetil 2014 Mar;155(9):348-57

Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.

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March 2014

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.

Eur J Paediatr Neurol 2014 Jan 1;18(1):75-8. Epub 2013 Oct 1.

Department of Laboratory Medicine, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.

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January 2014

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Am J Med Genet A 2013 Apr 22;161A(4):884-8. Epub 2013 Feb 22.

Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, Debrecen, Hungary.

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April 2013

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

Eur J Med Genet 2012 Feb 17;55(2):109-11. Epub 2011 Nov 17.

Inst. of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, 4012 Debrecen, Nagyerdei krt. 98., Hungary.

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February 2012