GINOP-2.3.2-15-2016-00039
GINOP-2.3.2-15-2016-00039
Ritka betegségek pathogenezisének kutatása, új diagnosztikai és terápiás eljárásokat megalapozó fejlesztések
pályázat kezdete: 2016-01-01
pályázat vége:
Teljes publikációs lista
Publikációs időszak:
2017-2023
2023
Pál, M.,
Nagy, D.,
Neller, A.,
Farkas, K.,
Leprán-Török, D.,
Nagy, N.,
Füstös, D.,
Nagy, R.,
Németh, A.,
Szilvássy, J.,
Rovó, L.,
Kiss, J.,
Széll, M.:
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Int. J. Mol. Sci. 24 (8), 1-14, 2023.
Folyóirat-mutatók:
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
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)
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
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
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
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
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
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)
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)
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)
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.
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
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.
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
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
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)
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.
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)
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
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)
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)
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)
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
2023
Pál, M.,
Nagy, D.,
Neller, A.,
Farkas, K.,
Leprán-Török, D.,
Nagy, N.,
Füstös, D.,
Nagy, R.,
Németh, A.,
Szilvássy, J.,
Rovó, L.,
Kiss, J.,
Széll, M.:
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Int. J. Mol. Sci. 24 (8), 1-14, 2023.
Folyóirat-mutatók:
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
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)
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
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
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
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
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
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)
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)
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)
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.
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
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.
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
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
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)
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.
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)
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
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)
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)
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)
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
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.
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.
Folyóirat-mutatók:
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.
Folyóirat-mutatók:
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.
Folyóirat-mutatók:
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.
Folyóirat-mutatók:
Q2 Genetics (clinical)
D1 Obstetrics and Gynecology
2017
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.
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
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
Mindet mutasd
frissítve: 2024-11-10, 02:26
