Tudóstér: GINOP-2.3.2-15-2016-00039 publikációi

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szűkítés
feltöltött közlemény: 34 Open Access: 26
2023
  1. Pál, M., Nagy, D., Neller, A., Farkas, K., Leprán-Török, D., Nagy, N., Füstös, D., Nagy, R., Németh, A., Szilvássy, J., Rovó, L., Kiss, Z., Széll, M.: Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
    Int. J. Mol. Sci. 24 (8), 1-14, 2023.
    Folyóirat-mutatók:
    Q2 Catalysis (2022)
    Q1 Computer Science Applications (2022)
    D1 Inorganic Chemistry (2022)
    Q1 Medicine (miscellaneous) (2022)
    Q2 Molecular Biology (2022)
    Q1 Organic Chemistry (2022)
    Q1 Physical and Theoretical Chemistry (2022)
    D1 Spectroscopy (2022)
2022
  1. 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.
    Folyóirat-mutatók:
    Q2 Genetics
    Q2 Genetics (clinical)
  2. Bessenyei, B., Balogh, I., Mokánszki, A., Ujfalusi, A., Pfundt, R., Szakszon, K.: MED13L-related intellectual disability due to paternal germinal mosaicism.
    Mol. Case Studies. 8 (1), 1-9, 2022.
    Folyóirat-mutatók:
    Q2 Biochemistry
    Q2 Genetics
    Q2 Genetics (clinical)
    Q2 Molecular Medicine
2021
  1. 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.
    Folyóirat-mutatók:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
  2. 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.
    Folyóirat-mutatók:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
  3. Bereczky, Z., Gindele, R., Fiatal, S., Speker, M., Miklós, T., Balogh, L., Mezei, Z., Szabó, Z., Ádány, R.: Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.
    Front. Cardiovasc. Med. 7 1-15, 2021.
    Folyóirat-mutatók:
    Q1 Cardiology and Cardiovascular Medicine
  4. Koczok, K., Horváth, L., Korade, Z., Mezei, Z., P. Szabó, G., Porter, N., Kovács, E., Mirnics, K., Balogh, I.: Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
    Biomolecules. 11 (8), 1-11, 2021.
    Folyóirat-mutatók:
    Q2 Biochemistry
    Q2 Molecular Biology
  5. Nagy, O., Kárteszi, J., Elmont, B., Ujfalusi, A.: Case Report: Expressive Speech Disorder in a Family as Hallmark of 7q31 Deletion Involving the FOXP2 Gene.
    Front. Pediatr. 9 1-8, 2021.
    Folyóirat-mutatók:
    Q1 Pediatrics, Perinatology and Child Health
  6. Major, T., Bereczky, Z., Gindele, R., Balogh, G., Rácz, B., Bora, L., Kézsmárki, Z., Brúgós, B., Pfliegler, G.: Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
    J Clin Med. 10 (17), 1-17, 2021.
    Folyóirat-mutatók:
    Q1 Medicine (miscellaneous)
  7. Major, T., Gindele, R., Balogh, G., Bárdossy, P., Bereczky, Z.: Founder Effects in Hereditary Hemorrhagic Telangiectasia.
    J Clin Med. 10 (8), 1-20, 2021.
    Folyóirat-mutatók:
    Q1 Medicine (miscellaneous)
  8. Szűcs, Z., Fitala, R., Nyuzó, Á., Fodor, K., Czemmel, É., Vrancsik, N., Bessenyei, M., Szabó, T., Szakszon, K., Balogh, I.: Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary.
    Genes. 12 (9), 1-13, 2021.
    Folyóirat-mutatók:
    Q2 Genetics
    Q2 Genetics (clinical)
  9. Morena-Barrio, M., Gindele, R., Bravo-Pérez, C., Ilonczai, P., Zuazu, I., Speker, M., Oláh, Z., Rodríguez-Sevilla, J., Entrena, L., Infante, M., Morena-Barrio, B., García, J., Schlammadinger, Á., Cifuentes-Riquelme, R., Mora, -., Miñano, A., Padilla, J., Vicente, V., Corral, J., Bereczky, Z.: High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: description of a new syndrome.
    Am. J. Hematol. 96 (11), 1363-1373, 2021.
    Folyóirat-mutatók:
    D1 Hematology
  10. Gindele, R., Pénzes-Daku, K., Balogh, G., Kállai, J., Kissné Bogáti, R., Bécsi, B., Erdődi, F., Katona, É., Bereczky, Z.: Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.
    Biomolecules. 11 (4), 1-18, 2021.
    Folyóirat-mutatók:
    Q2 Biochemistry
    Q2 Molecular Biology
  11. 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.
    Folyóirat-mutatók:
    Q2 Clinical Biochemistry
  12. Gindele, R., Kerényi, A., Kállai, J., Pfliegler, G., Schlammadinger, Á., Szegedi, I., Major, T., Szabó, Z., Bagoly, Z., Kiss, C., Kappelmayer, J., Bereczky, Z.: Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
    Life (Basel). 11 (3), 1-23, 2021.
    Folyóirat-mutatók:
    Q2 Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Q2 Ecology, Evolution, Behavior and Systematics
    Q2 Paleontology
    Q3 Space and Planetary Science
  13. Zodanu, G., Oszlánczi, M., Havasi, K., Kalapos, A., Rácz, G., Katona, M., Ujfalusi, A., Nagy, O., Széll, M., Nagy, D.: Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
    Front. Genet. 12 1-11, 2021.
    Folyóirat-mutatók:
    Q2 Genetics
    Q2 Genetics (clinical)
    Q2 Molecular Medicine
2020
  1. Ujfalusi, A., Nagy, O., Bessenyei, B., Lente, G., Kántor, I., Borbély, Á., Szakszon, K.: 22q13 microduplication syndrome in siblings with mild clinical phenotype: broadening the clinical and behavioral spectrum.
    Mol Syndromol. 11 (3), 146-152, 2020.
    Folyóirat-mutatók:
    Q3 Genetics
    Q3 Genetics (clinical)
  2. 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.
  3. Major, T., Csobay-Novák, C., Gindele, R., Szabó, Z., Bora, L., Jóni, N., Rácz, T., Karosi, T., Bereczky, Z.: Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia.
    J. Int. Med. Res. 48 (2), 1-7, 2020.
    Folyóirat-mutatók:
    Q3 Biochemistry
    Q3 Biochemistry (medical)
    Q4 Cell Biology
    Q3 Medicine (miscellaneous)
  4. Balogh, G., Komáromi, I., Bereczky, Z.: The mechanism of high affinity pentasaccharide binding to antithrombin, insights from Gaussian accelerated molecular dynamics simulations.
    J. Biomol. Struct. Dyn. 38 (16), 4718-4732, 2020.
    Folyóirat-mutatók:
    Q3 Medicine (miscellaneous)
    Q4 Molecular Biology
    Q4 Structural Biology
  5. Major, T., Gindele, R., Szabó, Z., Kis, Z., Bora, L., Jóni, N., Bárdossy, P., Rácz, T., Bereczky, Z.: The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia.
    Pathol. Oncol. Res. 26 (4), 2783-2788, 2020.
    Folyóirat-mutatók:
    Q3 Cancer Research
    Q2 Medicine (miscellaneous)
    Q3 Oncology
    Q2 Pathology and Forensic Medicine
2019
  1. Major, T., Gindele, R., Szabó, Z., Jóni, N., Kis, Z., Bora, L., Bárdossy, P., Rácz, T., Karosi, T., Bereczky, Z.: A herediter haemorrhagiás teleangiectasia (Osler-Weber-Rendu-kór) genetikai diagnosztikája.
    Orv. hetil. 160 (18), 710-719, 2019.
    Folyóirat-mutatók:
    Q3 Medicine (miscellaneous)
  2. Nagy, O., Szakszon, K., Biró, B., Mogyorósy, G., Nagy, D., Nagy, B., Balogh, I., Ujfalusi, A.: Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
    J. Biotechnol. 299 86-95, 2019.
    Folyóirat-mutatók:
    Q1 Applied Microbiology and Biotechnology
    Q2 Bioengineering
    Q1 Biotechnology
    Q1 Medicine (miscellaneous)
  3. 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.
    Folyóirat-mutatók:
    Q1 Applied Microbiology and Biotechnology
    Q2 Bioengineering
    Q1 Biotechnology
    Q1 Medicine (miscellaneous)
  4. Nagy, O., Kárteszi, J., Hartwig, M., Bertalan, R., Jávorszky, E., Erhardt, É., Patócs, A., Tornóczky, T., Balogh, I., Ujfalusi, A.: The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
    Mol. Biol. Rep. 46 (5), 5595-5601, 2019.
    Folyóirat-mutatók:
    Q4 Genetics
    Q2 Medicine (miscellaneous)
    Q4 Molecular Biology
  5. Kovac, M., Mitic, G., Mikovic, Z., Mandic, V., Miljic, P., Mitrovic, M., Tomic, B., Bereczky, Z.: The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications.
    Thromb. Res. 173 12-19, 2019.
    Folyóirat-mutatók:
    Q2 Hematology
2018
  1. 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.
    Folyóirat-mutatók:
    D1 Biotechnology
    Q1 Genetics
  2. 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.
    Folyóirat-mutatók:
    Q2 Genetics (clinical)
    Q2 Neurology
    Q1 Neurology (clinical)
    Q1 Pediatrics, Perinatology and Child Health
  3. 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.
    Folyóirat-mutatók:
    Q1 Nephrology
    Q1 Pediatrics, Perinatology and Child Health
  4. 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.
    Folyóirat-mutatók:
    Q2 Genetics (clinical)
    D1 Obstetrics and Gynecology
  5. Orosz, O., Fodor, M., Balogh, I., Losonczy, G.: Relative anterior microphthalmos in oculodentodigital dysplasia.
    Indian J. Ophthalmol. 66 (2), 334-336, 2018.
    Folyóirat-mutatók:
    Q3 Ophthalmology
2017
  1. Gindele, R., Selmeczi, A., Oláh, Z., Ilonczai, P., Pfliegler, G., Marján, E., Nemes, L., Nagy, Á., Losonczy, H., Mitic, G., Kovac, M., Balogh, G., Komáromi, I., Schlammadinger, Á., Molnárné Rázsó, K., Boda, Z., Muszbek, L., Bereczky, Z.: Clinical and laboratory characteristics of antithrombin deficiencies: a large cohort study from a single diagnostic center.
    Thromb. Res. 160 119-128, 2017.
    Folyóirat-mutatók:
    Q2 Hematology
  2. Orosz, O., Rajta, I., Vajas, A., Takács, L., Csutak, A., Fodor, M., Kolozsvári, B., Resch, M., Sényi, K., Lesch, B., Szabó, V., Berta, A., Balogh, I., Losonczy, G.: Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
    Invest. Ophthalmol. Vis. Sci. 58 (3), 1834-1842, 2017.
    Folyóirat-mutatók:
    Q1 Cellular and Molecular Neuroscience
    D1 Ophthalmology
    D1 Sensory Systems
  3. Korade, Z., Genaro-Mattos, T., Tallman, K., Liu, W., Garbett, K., Koczok, K., Balogh, I., Mirnics, K., Porter, N.: Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.
    J. Lipid Res. 58 (11), 2139-2146, 2017.
    Folyóirat-mutatók:
    D1 Biochemistry
    Q1 Cell Biology
    D1 Endocrinology
feltöltött közlemény: 34 Open Access: 26
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A szolgáltatást nyújtja: DEENK