Publication list
2023
Madar, L.,
Majoros, V.,
Szűcs, Z.,
Nagy, O.,
Babicz, T.,
Butz, H.,
Patócs, A.,
Balogh, I.,
Koczok, K.:
Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer.
Int. J. Mol. Sci. 24 (20), 1-7, 2023.
Journal metrics:
Q2 Catalysis
Q1 Computer Science Applications
D1 Inorganic Chemistry
Q1 Medicine (miscellaneous)
Q2 Molecular Biology
D1 Organic Chemistry
Q1 Physical and Theoretical Chemistry
D1 Spectroscopy
2022
Deák, A.,
Koczok, K.,
Bessenyei, B.,
Szűcs, Z.,
Madar, L.,
Csorba, G.,
Orosz, O.,
Laki, I.,
Halász, A.,
Marsal, G.,
Balogh, I.:
A magyar Cystás Fibrosis Regiszter genetikai revíziója.
Orv. hetil. 163 (51), 2052-2059, 2022.
Journal metrics:
Q4 Medicine (miscellaneous)
Madar, L.,
Juhász, L.,
Szűcs, Z.,
Kerkovits, L.,
Harangi, M.,
Balogh, I.:
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Genes. 13 (1), 1-13, 2022.
Journal metrics:
Q2 Genetics
Q2 Genetics (clinical)
Szabó, T.,
Balogh, I.,
Ujfalusi, A.,
Szűcs, Z.,
Madar, L.,
Koczok, K.,
Bessenyei, B.,
Csürke, I.,
Szakszon, K.:
Helsmoortel-Van der Aa Syndrome: Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
Genes. 13 (12), 1-13, 2022.
Journal metrics:
Q2 Genetics
Q2 Genetics (clinical)
2021
Gaál, Z.,
Szűcs, Z.,
Kántor, I.,
Luczay, A.,
Tóth, -.,
Benn, O.,
Felszeghy, E.,
Karádi, Z.,
Madar, L.,
Balogh, I.:
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
Life (Basel). 11 (755), 1-13, 2021.
Journal metrics:
Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
Q2 Ecology, Evolution, Behavior and Systematics
Q2 Paleontology
Q3 Space and Planetary Science
Gaál, Z.,
Szűcs, Z.,
Kántor, I.,
Luczay, A.,
Tóth, -.,
Benn, O.,
Felszeghy, E.,
Karádi, Z.,
Madar, L.,
Balogh, I.:
A Comprehensive Analysis of Hungarian MODY Patients-Part II: glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.
Life (Basel). 11 (8), 1-20, 2021.
Journal metrics:
Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
Q2 Ecology, Evolution, Behavior and Systematics
Q2 Paleontology
Q3 Space and Planetary Science
Mokánszki, A.,
Chang Chien, Y.,
Mótyán, J.,
Juhász, P.,
Bádon, E.,
Madar, L.,
Szegedi, I.,
Kiss, C.,
Méhes, G.:
Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma.
Diagnostics. 11 (1), 1-11, 2021.
Kaucsár, T.,
Jávorszky, E.,
Antal, V.,
Madar, L.,
Balogh, I.,
Tory, K.:
Vese-coloboma szindróma: PAX2 mutáció nyomában.
Gyermekgyógyászat 72 (3), 225-225, 2021.
2020
Juhász, L.,
Balogh, I.,
Madar, L.,
Kovács, B.,
Harangi, M.:
A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.
Cureus. 12 (12), 1-5, 2020.
2019
Mezei, Z.,
Tornai, D.,
Földesi, R.,
Madar, L.,
Sümegi, A.,
Papp, M.,
Antal-Szalmás, P.:
A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation: testing several different ITD sequences and rates, simultaneously.
J. Biotechnol. 303 25-29, 2019.
Journal metrics:
Q1 Applied Microbiology and Biotechnology
Q2 Bioengineering
Q1 Biotechnology
Q1 Medicine (miscellaneous)
Madar, L.,
Szakszon, K.,
Pfliegler, G.,
P. Szabó, G.,
Brúgós, B.,
Ronen, N.,
Papp, J.,
Zahuczky, K.,
Szakos, E.,
Fekete, G.,
Oláh, É.,
Koczok, K.,
Balogh, I.:
FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.
J. Biotechnol. 301 105-111, 2019.
Journal metrics:
Q1 Applied Microbiology and Biotechnology
Q2 Bioengineering
Q1 Biotechnology
Q1 Medicine (miscellaneous)
2018
Ivády, G.,
Madar, L.,
Dzsudzsák, E.,
Koczok, K.,
Kappelmayer, J.,
Krulisova, V.,
Macek, J.,
Horváth, A.,
Balogh, I.:
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
BMC Genomics. 19 1-8, 2018.
Journal metrics:
D1 Biotechnology
Q1 Genetics
Koczok, K.,
Merő, G.,
P. Szabó, G.,
Madar, L.,
Gombos, É.,
Ajzner, É.,
Mótyán, J.,
Hortobágyi, T.,
Balogh, I.:
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.
Neuromusc. Disord. 28 (2), 129-136, 2018.
Journal metrics:
Q2 Genetics (clinical)
Q2 Neurology
Q1 Neurology (clinical)
Q1 Pediatrics, Perinatology and Child Health
Szabó, T.,
Orosz, P.,
Balogh, E.,
Jávorszky, E.,
Máttyus, I.,
Bereczki, C.,
Maróti, Z.,
Kalmár, T.,
Szabó, A.,
Reusz, G.,
Várkonyi, I.,
Marián, E.,
Gombos, É.,
Orosz, O.,
Madar, L.,
Balla, G.,
Kappelmayer, J.,
Tory, K.,
Balogh, I.:
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Pediatr. Nephrol. 33 (10), 1713-1721, 2018.
Journal metrics:
Q1 Nephrology
Q1 Pediatrics, Perinatology and Child Health
Koczok, K.,
Gombos, É.,
Madar, L.,
Török, O.,
Balogh, I.:
Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.
Prenat. Diagn. 38 (9), 713-719, 2018.
Journal metrics:
Q2 Genetics (clinical)
D1 Obstetrics and Gynecology
2017
Molnár, Z.,
Balogh, L.,
Kappelmayer, J.,
Madar, L.,
Gombos, É.,
Balogh, I.:
Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report.
eJIFCC. 8 (28), 85-91, 2017.
Zádori, D.,
Szpisjak, L.,
Madar, L.,
Varga, V.,
Csányi, B.,
Bencsik, K.,
Balogh, I.,
Harangi, M.,
Kereszty, É.,
Vécsei, L.,
Klivényi, P.:
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
Neurol. Sci. 38 (3), 481-483, 2017.
Journal metrics:
Q2 Dermatology
Q2 Medicine (miscellaneous)
Q2 Neurology (clinical)
Q2 Psychiatry and Mental Health
2016
László, B.,
Ferenczi, A.,
Madar, L.,
Gyöngyösi, E.,
Szalmás, A.,
Szakács, L.,
Veress, G.,
Kónya, J.:
CpG methylation in human papillomavirus (HPV) type 31 long control region (LCR) in cervical infections associated with cytological abnormalities.
Virus Genes. 52 (4), 552-555, 2016.
Journal metrics:
Q3 Genetics
Q2 Medicine (miscellaneous)
Q3 Molecular Biology
Q3 Virology
2015
Ivády, G.,
Koczok, K.,
Madar, L.,
Gombos, É.,
Tóth, I.,
Győri, K.,
Balogh, I.:
Molecular Analysis of Cystic Fibrosis Patients in Hungary - an Update to the Mutational Spectrum.
J. Med. Biochem. 34 1-6, 2015.
Journal metrics:
Q3 Biochemistry (medical)
Q4 Clinical Biochemistry
2014
Varga, V.,
Katkó, M.,
Harangi, J.,
Balogh, I.,
Kapás, I.,
Madar, L.,
Seres, I.,
Molnár, M.,
Paragh, G.,
Kovács, G.,
Harangi, M.:
Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája.
Orv. Hetil. 155 (21), 811-816, 2014.
Journal metrics:
Q3 Medicine (miscellaneous)
2011
Ivády, G.,
Madar, L.,
Nagy, B.,
Gönczi, F.,
Ajzner, É.,
Dzsudzsák, E.,
Dvorakova, L.,
Gombos, É.,
Kappelmayer, J.,
Macek, J.,
Balogh, I.:
Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis?.
J. Cyst. Fibros. 10 (3), 217-220, 2011.
Journal metrics:
Q1 Pediatrics, Perinatology and Child Health
Q1 Pulmonary and Respiratory Medicine
updated: 2024-09-15, 01:14
