@article{MTMT:34831433,
	title = {Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.},
	url = {https://m2.mtmt.hu/api/publication/34831433},
	author = {Illés, Anett and Pikó, Henriett and Árvai, Kristóf and Donka, Veronika and Szepesi, Olívia and Kósa, János and Lakatos, Péter and Beke, Artúr},
	doi = {10.1186/s12920-024-01873-z},
	journal-iso = {BMC MED GENOMICS},
	journal = {BMC MEDICAL GENOMICS},
	volume = {17},
	unique-id = {34831433},
	issn = {1755-8794},
	abstract = {Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The aim of our study was to analyse the genetic background of POI in a Hungarian cohort.The age of onset was between 15 and 39 years. All patients had the 46,XX karyotype and they were prescreened for the most frequent POI associated FMR1 premutation. To identify genetic alterations next-generation sequencing (NGS) of 31 genes which were previously associated to POI were carried out in 48 unrelated patients from Hungary.Monogenic defect was identified in 16.7% (8 of 48) and a potential genetic risk factor was found in 29.2% (14 of 48) and susceptible oligogenic effect was described in 12.5% (6 of 48) of women with POI using the customized targeted panel sequencing. The genetic analysis identified 8 heterozygous damaging and 4 potentially damaging variants in POI-associated genes. Further 10 potential genetic risk factors were detected in seven genes, from which EIF2B and GALT were the most frequent. These variants were related to 15 genes: AIRE, ATM, DACH2, DAZL, EIF2B2, EIF2B4, FMR1, GALT, GDF9, HS6ST2, LHCGR, NOBOX, POLG, USP9X and XPNPEP2. In six cases, two or three coexisting damaging mutations and risk variants were identified.POI is characterized by heterogenous phenotypic features with complex genetic background that contains increasing number of genes. Deleterious variants, which were detected in our cohort, related to gonadal development (oogenesis and folliculogenesis), meiosis and DNA repair, hormonal signaling, immune function, and metabolism which were previously associated with the POI phenotype. This is the first genetic epidemiology study targeting POI associated genes in Hungary. The frequency of variants in different POI associated genes were similar to the literature, except EIF2B and GALT. Both of these genes potential risk factor were detected which could influence the phenotype, although it is unlikely that they can be responsible for the development of the disease by themselves. Advances of sequencing technologies make it possible to aid diagnostics of POI Since individual patients show high phenotypic variance because of the complex network controlling human folliculogenesis. Comprehensive NGS screening by widening the scope to genes which were previously linked to infertility may facilitate more accurate, quicker and cheaper genetic diagnoses for POI. The investigation of patient's genotype could support clinical decision-making process and pave the way for future clinical trials and therapies.},
	keywords = {infertility; Hungarian; Next generation sequencing; NGS; Premature ovarian insufficiency; POI; PoF},
	year = {2024},
	eissn = {1755-8794},
	orcid-numbers = {Illés, Anett/0000-0001-5351-9015; Pikó, Henriett/0000-0002-3579-5451; Árvai, Kristóf/0000-0001-8774-937X; Lakatos, Péter/0000-0002-7652-3671; Beke, Artúr/0000-0002-6826-7751}
}

@{MTMT:34803125,
	title = {A pajzsmirigy göbös megbetegedései, pajzsmirigytumorok},
	url = {https://m2.mtmt.hu/api/publication/34803125},
	author = {Szili, Balázs and Lakatos, Péter},
	booktitle = {Belgyógyászat 1 tantárgyi jegyzet},
	unique-id = {34803125},
	year = {2024},
	pages = {61-67},
	orcid-numbers = {Szili, Balázs/0000-0002-2816-9487; Lakatos, Péter/0000-0002-7652-3671}
}

@article{MTMT:34795043,
	title = {Analysis of SIRT1 Gene SNPs and Clinical Characteristics in Medication-Related Osteonecrosis of the Jaw},
	url = {https://m2.mtmt.hu/api/publication/34795043},
	author = {Bojtor, Bence and Vaszilkó, Mihály Tamás and Ármós, Richárd Levente and Tóbiás, Bálint and Podani, János and Szentpéteri, Szófia Katalin and Balla, Bernadett and Lengyel, Balazs and Pikó, Henriett and Illés, Anett and Kiss, András and Putz, Zsuzsanna and Takács, István and Kósa, János and Lakatos, Péter},
	doi = {10.3390/ijms25073646},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34795043},
	issn = {1661-6596},
	abstract = {Certain genetic factors, including single-nucleotide polymorphisms (SNPs) in the SIRT1 gene, have been linked to medication-related osteonecrosis of the jaw (MRONJ). This study examined four SNPs in the SIRT1 gene and implemented multivariate statistical analysis to analyze genetic and clinical factors in MRONJ patients. Genomic DNA was isolated from peripheral blood samples of 63 patients of European origin treated for MRONJ, and four SNP genotypes in the gene encoding the SIRT-1 protein were determined by Sanger sequencing. The allele frequencies measured in the MRONJ population were compared with allele frequencies measured in the European population in the National Center for Biotechnology Information Allele Frequency Aggregator (NCBI ALFA) database. Genetic and clinical factors were examined with multivariate statistical analysis. A C:A allele distribution ratio of 77.8:22.2 was measured in the rs932658 SNP. In the ALFA project, a C:A allele distribution ratio of 59.9:40.1 was detected in the European population, which was found to be a significant difference (p = 4.5 × 10−5). Multivariate statistical analysis revealed a positive correlation (0.275) between the genotype of SNP rs932658 and the number of stages improved during appropriate MRONJ therapy. It is concluded that allele A in SNP rs932658 in the SIRT1 gene acts as a protective factor in MRONJ.},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Vaszilkó, Mihály Tamás/0000-0002-2570-0009; Tóbiás, Bálint/0000-0003-4343-1866; Podani, János/0000-0002-1452-1486; Szentpéteri, Szófia Katalin/0000-0003-0073-4154; Balla, Bernadett/0000-0003-2465-1804; Pikó, Henriett/0000-0002-3579-5451; Illés, Anett/0000-0001-5351-9015; Putz, Zsuzsanna/0000-0002-0674-337X; Takács, István/0000-0002-7810-4833; Lakatos, Péter/0000-0002-7652-3671}
}

@article{MTMT:34780698,
	title = {Az első hazai tapasztalatok összegzése kromoszomális microarray-analízis és teljesexom-szekvenálás módszerekkel a magzati diagnosztikában},
	url = {https://m2.mtmt.hu/api/publication/34780698},
	author = {Pikó, Henriett and Illés, Anett and Nagy, Sándor and Beke, Artúr and Árvai, Kristóf and Elekes, Tibor and Ferdinandyné Horváth, Emese and Ferenczy, Miklós and Mosonyi, Péter and Lukács, Valéria and Klujber, Valéria and Török, Olga and Kiss, Zsuzsanna and P Tardy, Erika and Tidrenczel, Zsolt and Tóbiás, Bálint and Balla, Bernadett and Lakatos, Péter and Kósa, János and Takács, István},
	doi = {10.1556/650.2024.33028},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {165},
	unique-id = {34780698},
	issn = {0030-6002},
	abstract = {Bevezetés: Az elmúlt évtized egyik jelentős technológiai újdonsága az ún. ’high-throughput’ molekuláris genetikai vizsgálati módszerek – mint a kromoszomális microarray-analízis (chromosomal microarray analysis, CMA) és a teljesexom-szekvenálás (whole-exome sequencing, WES) – elterjedése a praenatalis diagnosztikában. Célkitűzés: Az elmúlt 5 évben munkacsoportunk több mint 252 praenatalis vizsgálatot végzett hazai laboratóriumi háttérrel, amelyek indikációját különböző súlyosságú strukturális magzati ultrahangeltérések képezték. A klasszikus citogenetikai vizsgálatok eredményétől függően végeztük el a nagy felbontású CMA- és WES-analíziseket a praenatalis diagnosztika érdekében. Módszer: A CMA-vizsgálatokat a „GeneChip System 3000 Instrument” platformmal végeztük az SNP-alapú komparatív hibridizálás módszerével. Az általunk elvégzett újgenerációs szekvenálás során a teljes humán exom szekvenciájának meghatározása IonTorrent és Illumina platformokkal történt. Eredmények: Összesen 252 magzati CMA-vizsgálatot végeztünk, és 42%-ban mutattunk ki valamilyen hiányt vagy többletet, ebből 22%-ban igazoltunk kóros eltérést. 42 esetben végeztünk WES-t, amelyből 9 esetben (21,4%) azonosítottunk kóros eltérést az öröklésmenetet támogató, a magzati fenotípussal feltételezhetően összefüggésben lévő, a ClinVar adatbázis vagy az ACMG-klasszifikáció alapján. Megbeszélés: Tekintettel arra, hogy a magzati fenotípus értékelése közvetett, a praenatalis CMA- és WES-elemzésnek elsősorban a magzati ultrahangvizsgálat során azonosítható strukturális anomáliákkal összefüggő génekre, kromoszomális régiókra kell korlátozódnia. A szülők vizsgálata mind a CMA-, mind a WES-analízisek során kiemelt jelentőséggel bír, főleg azokban az esetekben, amelyeknél a kapott eltérés nem hozható egyértelmű összefüggésbe az ultrahangeltérésekkel. Következtetés: Fontos meghatározni azokat a paramétereket, amelyek alapján a magzati mintában talált kópiaszám-eltéréseket és WES-vizsgálattal igazolt variánsokat a leletben közöljük (figyelembe véve a nemzetközi ajánlásokat). Ezek alapján a praenatalis klinikai genetikai tanácsadáskor sokkal használhatóbb információk adhatók. Orv Hetil. 2024; 165(14): 523–530.},
	year = {2024},
	eissn = {1788-6120},
	pages = {523-530},
	orcid-numbers = {Pikó, Henriett/0000-0002-3579-5451; Illés, Anett/0000-0001-5351-9015; Beke, Artúr/0000-0002-6826-7751; Árvai, Kristóf/0000-0001-8774-937X; Tidrenczel, Zsolt/0000-0001-7223-1551; Tóbiás, Bálint/0000-0003-4343-1866; Balla, Bernadett/0000-0003-2465-1804; Lakatos, Péter/0000-0002-7652-3671; Takács, István/0000-0002-7810-4833}
}

@article{MTMT:34574277,
	title = {Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes.},
	url = {https://m2.mtmt.hu/api/publication/34574277},
	author = {Tordai, Dóra Zsuzsanna and Hajdú, Noémi and Rácz, Ramóna and Istenes, Ildikó and Békeffy, Magdolna Zsófia and Vági, Orsolya and Kempler, Miklós and Körei, Anna Erzsébet and Tóbiás, Bálint and Illés, Anett and Pikó, Henriett and Kósa, János and Árvai, Kristóf and Papp, Márton and Lakatos, Péter and Kempler, Péter and Putz, Zsuzsanna},
	doi = {10.3390/ijms25031815},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34574277},
	issn = {1661-6596},
	abstract = {Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with long-term type 2 diabetes with neuropathy and 24 without underwent detailed neurological assessment and whole exome sequencing. Cardiovascular autonomic function was evaluated by cardiovascular reflex tests. Heart rate variability was measured by the triangle index. Sensory nerve function was estimated by Neurometer and Medoc devices. Neuropathic symptoms were characterized by the neuropathy total symptom score (NTSS). Whole exome sequencing (WES) was performed on a Thermo Ion GeneStudio S5 system determining the coding sequences of approximately 32,000 genes comprising 50 million base pairs. Variants were detected by Ion Reporter software and annotated using ANNOVAR, integrating database information from dbSNP, ClinVar, gnomAD, and OMIM. Integrative genomics viewer (IGV) was used for visualization of the mapped reads. We have identified genetic variants that were significantly associated with increased (22-49-fold) risk of neuropathy (rs2032930 and rs2032931 of recQ-mediated genome instability protein 2 (RMI2) gene), rs604349 of myosin binding protein H like (MYBPHL) gene and with reduced (0.07-0.08-fold) risk (rs917778 of multivesicular body subunit 12B (MVB12B) and rs2234753 of retinoic acid X receptor alpha (RXRA) genes). The rs2032930 showed a significant correlation with current perception thresholds measured at 5 Hz and 250 Hz for n. medianus (p = 0.042 and p = 0.003, respectively) and at 5 Hz for n. peroneus (p = 0.037), as well as the deep breath test (p = 0.022) and the NTSS (p = 0.023). The rs2032931 was associated with current perception thresholds (p = 0.003 and p = 0.037, respectively), deep breath test (p = 0.022), and NTSS (p = 0.023). The rs604349 correlated with values measured at 2000 (p = 0.049), 250 (p = 0.018), and 5 Hz (p = 0.005) for n. medianus, as well as warm perception threshold measured by Medoc device (p = 0.042). The rs2234753 showed correlations with a current perception threshold measured at 2000 Hz for n. medianus (p = 0.020), deep breath test (p = 0.040), and NTSS (p = 0.003). There was a significant relationship between rs91778 and cold perception threshold (p = 0.013). In our study, genetic variants have been identified that may have an impact on the risk of neuropathy developing in type 2 diabetic patients. These results could open up new opportunities for early preventive measures and might provide targets for new drug developments in the future.},
	keywords = {Type 2 diabetes; Genetic variants; neuropathy risk},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Tordai, Dóra Zsuzsanna/0000-0002-1614-3861; Rácz, Ramóna/0009-0000-0061-8116; Istenes, Ildikó/0000-0001-5582-6166; Békeffy, Magdolna Zsófia/0009-0005-5659-9758; Vági, Orsolya/0000-0002-9664-9423; Kempler, Miklós/0000-0003-4566-5981; Körei, Anna Erzsébet/0000-0001-6201-2961; Tóbiás, Bálint/0000-0003-4343-1866; Illés, Anett/0000-0001-5351-9015; Pikó, Henriett/0000-0002-3579-5451; Árvai, Kristóf/0000-0001-8774-937X; Lakatos, Péter/0000-0002-7652-3671; Kempler, Péter/0000-0002-6072-8832; Putz, Zsuzsanna/0000-0002-0674-337X}
}

@{MTMT:34722687,
	title = {A csont, a porc és az ízületek betegségei},
	url = {https://m2.mtmt.hu/api/publication/34722687},
	author = {Lakatos, Péter},
	booktitle = {Orvosi patobiokémia},
	unique-id = {34722687},
	year = {2023},
	pages = {469-478},
	orcid-numbers = {Lakatos, Péter/0000-0002-7652-3671}
}

@article{MTMT:34568212,
	title = {A FARMAKOGENETIKA JELENTŐSÉGE A KORSZERŰ BETEGELLÁTÁSBAN},
	url = {https://m2.mtmt.hu/api/publication/34568212},
	author = {Tóbiás, Bálint and Pikó, Henriett and Árvai, Kristóf and Illés, Anett and Putz, Zsuzsanna and Balla, Bernadett and Takács, István and Lakatos, Péter and Kósa, János},
	journal-iso = {MBA},
	journal = {MAGYAR BELORVOSI ARCHIVUM},
	volume = {76},
	unique-id = {34568212},
	issn = {0133-5464},
	year = {2023},
	pages = {336-336},
	orcid-numbers = {Tóbiás, Bálint/0000-0003-4343-1866; Pikó, Henriett/0000-0002-3579-5451; Árvai, Kristóf/0000-0001-8774-937X; Illés, Anett/0000-0001-5351-9015; Putz, Zsuzsanna/0000-0002-0674-337X; Balla, Bernadett/0000-0003-2465-1804; Takács, István/0000-0002-7810-4833; Lakatos, Péter/0000-0002-7652-3671}
}

@article{MTMT:34567770,
	title = {FELNŐTTKORBAN FELISMERT HYPOCALCAEMIA ÉS IMMUNHIÁNY},
	url = {https://m2.mtmt.hu/api/publication/34567770},
	author = {Szili, Balázs and Kósa, János and Szili-Janicsek, Zsófia and Istenes, Ildikó and Lakatos, Péter and Demeter, Judit},
	journal-iso = {MBA},
	journal = {MAGYAR BELORVOSI ARCHIVUM},
	volume = {76},
	unique-id = {34567770},
	issn = {0133-5464},
	year = {2023},
	pages = {334-334},
	orcid-numbers = {Szili, Balázs/0000-0002-2816-9487; Istenes, Ildikó/0000-0001-5582-6166; Lakatos, Péter/0000-0002-7652-3671; Demeter, Judit/0000-0001-8745-0757}
}

@article{MTMT:34566372,
	title = {SÚLYOS POLYGLOBULIA ESETÉN A KEZELÉS ELSŐ LÉPÉSE A VÉRLEBOCSÁTÁS. EZ MINDEN ESETBEN ÍGY VAN?},
	url = {https://m2.mtmt.hu/api/publication/34566372},
	author = {Nagy, Z and Pfliegler, G and Kósa, János and Árvai, Kristóf and Timár, Botond and Lakatos, Péter and Demeter, Judit},
	journal-iso = {MBA},
	journal = {MAGYAR BELORVOSI ARCHIVUM},
	volume = {76},
	unique-id = {34566372},
	issn = {0133-5464},
	year = {2023},
	pages = {327-327},
	orcid-numbers = {Árvai, Kristóf/0000-0001-8774-937X; Timár, Botond/0000-0001-6210-8154; Lakatos, Péter/0000-0002-7652-3671; Demeter, Judit/0000-0001-8745-0757}
}

@article{MTMT:34561783,
	title = {A KIF21A GÉNBEN AZONOSÍTOTT ÖSSZETETT HETEROZIGÓTA FUNKCIÓVESZTÉSES VARIÁNSOK SZEREPE A MAGZATI DEFORMITÁSOK HÁTTERÉBEN},
	url = {https://m2.mtmt.hu/api/publication/34561783},
	author = {Illés, Anita and Pikó, Henriett and Kósa, János and Lukács, V and Ferenczy, M and Lakatos, Péter},
	journal-iso = {MBA},
	journal = {MAGYAR BELORVOSI ARCHIVUM},
	volume = {76},
	unique-id = {34561783},
	issn = {0133-5464},
	year = {2023},
	pages = {312-312},
	orcid-numbers = {Pikó, Henriett/0000-0002-3579-5451; Lakatos, Péter/0000-0002-7652-3671}
}