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List of works by Istvan Balogh

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article

A modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasma

scientific article published on 01 December 2000

A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.

scientific article published in May 2005

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.

scientific article published on 7 December 2017

Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients.

scientific article

Analysis of the population heterogeneity in Hungary using fifteen forensically informative STR markers.

scientific article

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.

scientific article published on 21 February 2018

Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy

scientific article published in April 2014

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

scientific article

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

scientific article published on 28 June 2018

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

scientific article published on 01 May 2019

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article published on 16 February 2017

Detection of mutations by flow cytometric melting point analysis of PCR products.

scientific article

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

scientific article published on 25 November 2016

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

scientific article published on 04 February 2011

Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A

scientific article published on 01 October 2000

Factor V Leiden as a risk factor for miscarriage and reduced fertility

scientific article published on 01 May 2000

Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary

scientific article published on 01 December 2004

High frequency of factor V Leiden mutation and prothrombin 20210A variant in Romanies of Eastern Hungary

scientific article published on 01 November 1999

High prevalence of factor V Leiden mutation and 20210A prothrombin variant in Hungary

scientific article published on 01 April 1999

Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis

scientific article published on 19 April 2016

Hypercoagulability in various autoimmune diseases: no association with factor V Leiden mutation

scientific article published on 01 January 2000

Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome

scientific article published on October 2015

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

scientific article published on 11 July 2018

Investigation of Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in type 2 diabetes mellitus

scientific article published on 01 July 2007

Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis

scientific article published on 01 May 2014

Membranous glomerulonephritis in a patient with inherited activated protein C resistance

scientific article published on 01 May 2000

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum

scientific article published on 8 October 2014

Molecular Diagnostic Challenges and Complex Management of Consecutive Twin Pregnancies in a Family with CD40 Ligand Deficiency

scientific article published on 01 February 2012

Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

scientific article

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

scientific article published on 15 August 2008

Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.

scientific article published on 20 August 2013

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene

scientific article

Public health approach to activated protein C resistance assay

scientific article published on 01 November 1997

Relative anterior microphthalmos in oculodentodigital dysplasia

scientific article published in February 2018

Risk for venous thrombosis in autoimmune diseases with antiphospholipid antibodies and factor V Leiden mutation among Hungarian patients

scientific article published on 01 November 2000

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

scientific article

Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene

scientific article published on 01 January 2002

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

scientific article published on 18 October 2007

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts

scientific article (publication date: 11 February 2016)

The Leiden mutation of coagulation factor V in Hungarian SLE patients

scientific article published on 01 January 2000

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

scientific article published on 01 May 2002

The c.-133A > G polymorphism in NPC1L1 gene influences the efficacy of ezetimibe monotherapy on apolipoprotein A1 in hyperlipidemic patients.

scientific article

The frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern Hungary

scientific article published on 01 November 1999

Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)

scientific article published in July 2016

Umbilical cord plasma levels of growth-arrest specific protein 6 in intrauterine growth restriction

scientific article published on 01 January 2010

Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia

scientific article published on 01 October 2000

Variable effect of prothrombotic factors on fetomaternal circulation

scientific article published on 01 December 2005

Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.

scientific article published on 28 September 2017

[Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) - the first case in Hungary]

scientific article published in March 2016

[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients]

scientific article published on 01 July 2012

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