Publications by authors named "Kinga Hadzsiev"

59Publications

Gene testing in Treacher Collins syndrome

Orv Hetil 2020 12 27;161(52):2201-2205. Epub 2020 Dec 27.

1 Pécsi Tudományegyetem, Általános Orvostudományi Kar, Klinikai Központ, Orvosi Genetikai Intézet, Pécs, József A. u. 7., 7623.

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December 2020

[When is it necessary to refer a child with cancer to genetic counseling?]

Magy Onkol 2020 Mar 27;64(1):38-42. Epub 2020 Feb 27.

Orvosi Genetikai Intézet, PTE KK, Pécs, Hungary.

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March 2020

[ mutation in a male patient identified in the background of severe epileptic encephalopathy].

Orv Hetil 2019 Dec;160(51):2036-2039

Klinikai Központ, Orvosi Genetikai Intézet,Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, József Attila u. 7., 7623.

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December 2019

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.

Seizure 2020 Jan 8;74:8-13. Epub 2019 Nov 8.

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

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January 2020

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Int J Mol Sci 2019 Oct 5;20(19). Epub 2019 Oct 5.

Department of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary.

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October 2019

[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].

Orv Hetil 2019 May;160(21):835-838

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

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May 2019

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Eur J Med Genet 2019 Jul 6;62(7):103662. Epub 2019 May 6.

Department of Medical Genetics, University of Pécs, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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July 2019

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Eur J Med Genet 2020 Feb 27;63(2):103655. Epub 2019 Apr 27.

Department of Medical Genetics, University of Pécs, Clinical Center, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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February 2020

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Jul;28(3):137-141

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

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July 2019

First report on the association of SCN1A mutation, childhood schizophrenia and autism spectrum disorder without epilepsy.

Psychiatry Res 2018 12 19;270:1175-1176. Epub 2018 Jul 19.

University of Pécs, Medical School, Department of Pediatrics, Pécs, Hungary. Electronic address:

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December 2018

Role of carnitine and its derivatives in the development and management of type 2 diabetes.

Nutr Diabetes 2018 03 7;8(1). Epub 2018 Mar 7.

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

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March 2018

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

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

[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

Orv Hetil 2017 Oct;158(42):1681-1684

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

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October 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

Refining the South Asian Origin of the Romani people.

BMC Genet 2017 08 31;18(1):82. Epub 2017 Aug 31.

University of Pecs, Szentagothai Research Centre, Ifjusag Road 20, Pecs, H-7624, Hungary.

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August 2017

[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases].

Orv Hetil 2017 Jul;158(30):1188-1194

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

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July 2017

[A8344G mitochondrial DNA mutation observed in two generations].

Orv Hetil 2017 Mar;158(12):468-471

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

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March 2017

single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.

World J Gastroenterol 2017 Jan;23(3):447-454

Sarah Fischer, Patrícia Sarlós, Division of Gastroenterology, 1 Department of Internal Medicine, University of Pécs, 7624 Pécs, Hungary.

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January 2017

Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature.

Curr Med Chem 2016 ;23(31):3632-3652

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

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February 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

[Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients].

Orv Hetil 2015 Nov;156(45):1834-8

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

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November 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

Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.

Pharmacol Rep 2015 Jun 27;67(3):460-4. Epub 2014 Nov 27.

Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address:

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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

Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.

Cytogenet Genome Res 2014 20;144(3):190-5. Epub 2014 Dec 20.

Department of Medical Genetics, University of Pécs, Pécs, Hungary.

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April 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

[Identifying rare genomic disorders with array comparative genomic hybridization in Hungary].

Orv Hetil 2014 Mar;155(9):358-61

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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March 2014

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.

Neuromuscul Disord 2014 Feb 11;24(2):156-61. Epub 2013 Nov 11.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.

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February 2014

[Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis].

Orv Hetil 2013 Jun;154(23):914-8

Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs Szigeti út 12. 7623 Pécsi Tudományegyetem, Általános Orvostudomáyi Kar, Szentágothai Kutatóközpont, Pécs.

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June 2013

[Larsen-syndrome: final diagnosis following multiple surgical interventions].

Orv Hetil 2013 Jan;154(4):143-6

Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs József A. út 7. 7623 Pécsi Tudományegyetem Szentágothai Kutatóközpont Pécs.

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January 2013

Jumping translocation of 15q24-qter resulting in partial trisomy: a case report.

Gene 2012 Jul 21;503(1):155-9. Epub 2012 Apr 21.

Department of Medical Genetics, University of Pécs, H-7623 Pécs, Hungary.

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July 2012

[Unusual clinical manifestations of type 1 neurofibromatosis].

Orv Hetil 2011 Dec;152(49):1965-70

Pécsi Tudományegyetem, Klinikai Központ Orvosi Genetikai Intézet Pécs József A. u. 7. 7623.

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December 2011

[Molecular genetic diagnosis of neurofibromatosis type I].

Orv Hetil 2011 Mar;152(11):415-9

Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Pécs Szigeti u. 12. 7624.

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March 2011

[Psychological aspects of presymptomatic diagnosis in Huntington disease].

Orv Hetil 2008 Mar;149(13):609-12

Pécsi Tudományegyetem, Altalános Orvostudományi Kar Orvosi Genetikai és Gyermekfejlodéstani Intézet Pécs József A. u. 7. 7623.

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March 2008

Excess of malignancies in grandparents of children with malformations? Short communication.

Acta Biol Hung 2006 Mar;57(1):137-40

Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

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March 2006

Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.

Clin Dysmorphol 2006 Jan;15(1):29-31

University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary.

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January 2006

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Arch Dermatol 2005 May;141(5):617-20

Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

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May 2005

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Orv Hetil 2004 Apr;145(17):909-11

Pécsi Tudományegyetem, Orvos- és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlódéstani Intézet, Pécs.

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April 2004