@article{MTMT:34035935,
	title = {Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS},
	url = {https://m2.mtmt.hu/api/publication/34035935},
	author = {Pál, Margit and Vetró, Éva and Nagy, Nikoletta and Nagy, Dóra and Ferdinandyné Horváth, Emese and Bokor, Barbara Anna and Varga, Anita and Seres, László and Oláh, Judit Magdolna and Piffkó, József and Széll, Márta},
	doi = {10.3390/cimb45070336},
	journal-iso = {CURR ISSUES MOL BIOL},
	journal = {CURRENT ISSUES IN MOLECULAR BIOLOGY},
	volume = {45},
	unique-id = {34035935},
	issn = {1467-3037},
	abstract = {Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 (PTCH1) gene and the suppressor of the fused homolog (SUFU) gene. In a few cases, variants of patched 2 (PTCH2) have been found in patients who met the criteria for BCNS. In an investigation of 11 Hungarian families who fulfilled the diagnostic criteria for BCNS, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) identified two novel pathogenic variants (c.2994C>A; p.Cys998Ter and c.814_818del; p.Asn272SerfsTer11), one recently identified variant (c.1737_1745del p.Val580_Val582del), and three recurrent disease-causing variants of the PTCH1 gene with a diagnosis rate of 63.6%. Disease-causing variants were not found for the SUFU and PTCH2 genes. These applied methods could not fully elucidate the genetic background of all the BCNS cases that we investigated. To uncover the missing heritability of BCNS, whole-genome sequencing or an epigenetic approach might be considered in the future.},
	year = {2023},
	eissn = {1467-3045},
	pages = {5293-5304},
	orcid-numbers = {Piffkó, József/0000-0001-7119-2685; Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:33055740,
	title = {Állcsontnövekedési zavarokra specifikus életminőség-kérdőív magyar nyelvű adaptálása [Translation and validation of the Hungarian version of the Orthognathic Quality of Life Questionnaire]},
	url = {https://m2.mtmt.hu/api/publication/33055740},
	author = {Mucsi, Marietta and Mányai, A. and Mészáros, Bence and Piffkó, József and Seres, László},
	doi = {10.1556/650.2022.32533},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {163},
	unique-id = {33055740},
	issn = {0030-6002},
	year = {2022},
	eissn = {1788-6120},
	pages = {1275-1280},
	orcid-numbers = {Mészáros, Bence/0000-0003-3522-6723; Piffkó, József/0000-0001-7119-2685}
}

@article{MTMT:32736861,
	title = {Multidisciplinary approach for mapping genetic variants in naevoid basal cell carcinoma syndrome. Newly identified patched 1 mutations in half-sisters. [case report]},
	url = {https://m2.mtmt.hu/api/publication/32736861},
	author = {Vetró, Éva and Oláh, Judit Magdolna and Kalmár, Tibor and Maróti, Zoltán and Horvath, E and Széll, Márta and Piffkó, József and Seres, László},
	journal-iso = {AJDS},
	journal = {Asian Journal of Dental Sciences},
	volume = {5},
	unique-id = {32736861},
	year = {2022},
	pages = {93-100},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Maróti, Zoltán/0000-0002-0515-117X; Széll, Márta/0000-0002-0730-714X; Piffkó, József/0000-0001-7119-2685}
}

@misc{MTMT:31927651,
	title = {Az arc- és szájüregi fájdalom differenciál diagnózisa és kezelése},
	url = {https://m2.mtmt.hu/api/publication/31927651},
	author = {Seres, László},
	unique-id = {31927651},
	year = {2021}
}

@misc{MTMT:31927642,
	title = {Az állcsontok oszteodisztrakciója},
	url = {https://m2.mtmt.hu/api/publication/31927642},
	author = {Seres, László},
	unique-id = {31927642},
	year = {2021}
}

@misc{MTMT:31927634,
	title = {Ortognát sebészet},
	url = {https://m2.mtmt.hu/api/publication/31927634},
	author = {Seres, László},
	unique-id = {31927634},
	year = {2021}
}

@misc{MTMT:31927609,
	title = {Orofacial pain},
	url = {https://m2.mtmt.hu/api/publication/31927609},
	author = {Seres, László},
	unique-id = {31927609},
	year = {2021}
}

@misc{MTMT:31927605,
	title = {Distraction Osteogenesis of the Facial Skeleton},
	url = {https://m2.mtmt.hu/api/publication/31927605},
	author = {Seres, László},
	unique-id = {31927605},
	year = {2021}
}

@misc{MTMT:31927600,
	title = {Orthognathic Surgery},
	url = {https://m2.mtmt.hu/api/publication/31927600},
	author = {Seres, László},
	unique-id = {31927600},
	year = {2021}
}

@article{MTMT:31709061,
	title = {A Gorlin–Goltz-szindróma genetikai aspektusai [Genetic aspects of Gorlin-Goltz syndrome]},
	url = {https://m2.mtmt.hu/api/publication/31709061},
	author = {Vetró, Éva and Oláh, Judit Magdolna and Nagy, Dóra and Széll, Márta and Piffkó, József and Seres, László},
	doi = {10.1556/650.2020.31933},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {161},
	unique-id = {31709061},
	issn = {0030-6002},
	year = {2020},
	eissn = {1788-6120},
	pages = {2072-2077},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X; Piffkó, József/0000-0001-7119-2685}
}