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Double Heterozygosity for Rare Deleterious Variants in the BRCA1 and BRCA2 Genes in a Hungarian Patient with Breast Cancer
Madar, László, Majoros, Viktória, Szűcs, Zsuzsanna, Nagy, Orsolya, Babicz, Tamás, Butz, Henriett, Patócs, Attila, Balogh, István, Koczok, Katalin
Published in International journal of molecular sciences (18.10.2023)
Published in International journal of molecular sciences (18.10.2023)
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Journal Article
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system
Ivády, Gergely, Madar, László, Dzsudzsák, Erika, Koczok, Katalin, Kappelmayer, János, Krulisova, Veronika, Macek, Milan, Horváth, Attila, Balogh, István
Published in BMC genomics (21.02.2018)
Published in BMC genomics (21.02.2018)
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Journal Article
Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing
Koczok, Katalin, Gombos, Éva, Madar, László, Török, Olga, Balogh, István
Published in Prenatal diagnosis (01.08.2018)
Published in Prenatal diagnosis (01.08.2018)
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Journal Article
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia
Madar, László, Juhász, Lilla, Szűcs, Zsuzsanna, Kerkovits, Lóránt, Harangi, Mariann, Balogh, István
Published in Genes (15.01.2022)
Published in Genes (15.01.2022)
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Journal Article
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
Mezei, Zoltán A., Tornai, Dávid, Földesi, Róza, Madar, László, Sümegi, Andrea, Papp, Mária, Antal-Szalmás, Péter
Published in Journal of biotechnology (10.09.2019)
Published in Journal of biotechnology (10.09.2019)
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Journal Article
A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István
Published in Life (Basel, Switzerland) (30.07.2021)
Published in Life (Basel, Switzerland) (30.07.2021)
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Journal Article
A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes
Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István
Published in Life (Basel, Switzerland) (27.07.2021)
Published in Life (Basel, Switzerland) (27.07.2021)
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Journal Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies
Szabó, Tamás, Orosz, Petronella, Balogh, Eszter, Jávorszky, Eszter, Máttyus, István, Bereczki, Csaba, Maróti, Zoltán, Kalmár, Tibor, Szabó, Attila J, Reusz, George, Várkonyi, Ildikó, Marián, Erzsébet, Gombos, Éva, Orosz, Orsolya, Madar, László, Balla, György, Kappelmayer, János, Tory, Kálmán, Balogh, István
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
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Journal Article
Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
Szabó, Tímea Margit, Balogh, István, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Madar, László, Koczok, Katalin, Bessenyei, Beáta, Csürke, Ildikó, Szakszon, Katalin
Published in Genes (15.12.2022)
Published in Genes (15.12.2022)
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Journal Article
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy
Koczok, Katalin, Merő, Gabriella, Szabó, Gabriella P., Madar, László, Gombos, Éva, Ajzner, Éva, Mótyán, János András, Hortobágyi, Tibor, Balogh, István
Published in Neuromuscular disorders : NMD (01.02.2018)
Published in Neuromuscular disorders : NMD (01.02.2018)
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Journal Article
FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies
Madar, László, Szakszon, Katalin, Pfliegler, György, Szabó, Gabriella P., Brúgós, Boglárka, Ronen, Natali, Papp, Judit, Zahuczky, Katalin, Szakos, Erzsébet, Fekete, György, Oláh, Éva, Koczok, Katalin, Balogh, István
Published in Journal of biotechnology (10.08.2019)
Published in Journal of biotechnology (10.08.2019)
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Journal Article
A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient
Juhász, Lilla, Balogh, István, Madar, László, Kovács, Beáta, Harangi, Mariann
Published in Curēus (Palo Alto, CA) (20.12.2020)
Published in Curēus (Palo Alto, CA) (20.12.2020)
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Journal Article
Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma
Mokánszki, Attila, Chang Chien, Yi-Che, Mótyán, János András, Juhász, Péter, Bádon, Emese Sarolta, Madar, László, Szegedi, István, Kiss, Csongor, Méhes, Gábor
Published in Diagnostics (Basel) (25.12.2020)
Published in Diagnostics (Basel) (25.12.2020)
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Journal Article
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series
Zádori, Dénes, Szpisjak, László, Madar, László, Varga, Viktória Evelin, Csányi, Bernadett, Bencsik, Krisztina, Balogh, István, Harangi, Mariann, Kereszty, Éva, Vécsei, László, Klivényi, Péter
Published in Neurological sciences (01.03.2017)
Published in Neurological sciences (01.03.2017)
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Journal Article
Double Heterozygosity for Rare Deleterious Variants in the IBRCA1/I and IBRCA2/I Genes in a Hungarian Patient with Breast Cancer
Madar, László, Majoros, Viktória, Szűcs, Zsuzsanna, Nagy, Orsolya, Babicz, Tamás, Butz, Henriett, Patócs, Attila, Balogh, István, Koczok, Katalin
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Journal Article
CpG methylation in human papillomavirus (HPV) type 31 long control region (LCR) in cervical infections associated with cytological abnormalities
László, Brigitta, Ferenczi, Annamária, Madar, László, Gyöngyösi, Eszter, Szalmás, Anita, Szakács, Levente, Veress, György, Kónya, József
Published in Virus genes (01.08.2016)
Published in Virus genes (01.08.2016)
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Journal Article
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
Molnár, Zsuzsanna, Balogh, Lfdia, Kappelmayer, János, Madar, László, Gombos, Éva, Balogh, István
Published in EJIFCC (01.03.2017)
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Published in EJIFCC (01.03.2017)
Journal Article
1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients
Balogh, Istvan, Szabo, Tamas, Reusz, Gyorgy, Mikes, Balint, Koczok, Katalin, Madar, Laszlo, Nagy, Orsolya, Till, Agnes, Meichelbeck, Krisztina, Pfliegler, Gyorgy, Szabo, Andras, Lengyel, Anna
Published in Nephrology, dialysis, transplantation (23.05.2024)
Published in Nephrology, dialysis, transplantation (23.05.2024)
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Journal Article
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Ivady, Gergely, Madar, Laszlo, Nagy, Bela, Gonczi, Ferenc, Ajzner, Eva, Dzsudzsak, Erika, Dvořáková, Lenka, Gombos, Eva, Kappelmayer, Janos, Macek, Milan, Balogh, Istvan
Published in Journal of cystic fibrosis (01.05.2011)
Published in Journal of cystic fibrosis (01.05.2011)
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Journal Article