Lista de obras - Istvan Balogh - Dominio Público Uruguay

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Effect of Apolipoprotein E genotypes on the efficacy of ezetimibe monotherapy in patients with statin induced adverse effects

artículo científico publicado el 1 de septiembre de 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene

artículo científico publicado en 2015

Public health approach to activated protein C resistance assay

artículo científico publicado en 1997

Relative anterior microphthalmos in oculodentodigital dysplasia

artículo científico publicado en 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.

artículo científico publicado en 2006

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

The Leiden mutation of coagulation factor V in Hungarian SLE patients

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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)

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

Lista de obras de Istvan Balogh

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

Effect of Apolipoprotein E genotypes on the efficacy of ezetimibe monotherapy in patients with statin induced adverse effects

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

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

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

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

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

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

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

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

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

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

Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis

Membranous glomerulonephritis in a patient with inherited activated protein C resistance

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

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

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

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

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

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene

Public health approach to activated protein C resistance assay

Relative anterior microphthalmos in oculodentodigital dysplasia

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

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

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

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

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

The Leiden mutation of coagulation factor V in Hungarian SLE patients

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

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

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

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

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

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

Variable effect of prothrombotic factors on fetomaternal circulation

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

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

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