@article{MTMT:34683151,
	title = {MECP2-gén-duplikáció gyermekkori és praenatalis diagnózisa},
	url = {https://m2.mtmt.hu/api/publication/34683151},
	author = {Bokor, Barbara Anna and Török, Dóra and Ferdinandyné Horváth, Emese and László, Zsuzsanna and Pál, Margit and Szűcs, Péter and Széll, Márta},
	doi = {10.1556/650.2024.32956},
	journal-iso = {ORV HETIL},
	journal = {ORVOSI HETILAP},
	volume = {165},
	unique-id = {34683151},
	issn = {0030-6002},
	abstract = {A MECP2 -duplikációs szindróma (Lubs-féle mentális fejlődési zavar) X-kromoszómához kötött öröklődésmenetet mutató ritka kórállapot, amely hemizigóta fiúkban mindig előidéz klinikai tüneteket, míg az eltérést hordozó nők általában tünetmentesek, bár ritkán a nőkben is kialakulhatnak változatos súlyosságú tünetek. Az általunk vizsgált 6 éves leány genetikai konzíliumát mozgás- és beszédfejlődésben észlelt elmaradás miatt kérte a gyermekneurológus szakorvos. A proband kislány kromoszómavizsgálata normál női karyotypust mutatott. A P245 microdeletiós szindrómára specifikus 1A-próbamixszel végzett multiplex ligatiofüggő próbaamplifikációs (MLPA-) vizsgálat az Xq28 kromoszomális régióban a MECP2-4b, MECP2-3, valamint MECP2-1 próbák területén heterozigóta duplikációt jelzett. Az Xq28 kromoszomális régióra specifikus fluoreszcens in situ hibridizációs (FISH-) vizsgálat során nem tapasztaltunk duplikációt. A családtagok közül a beteg egészséges leánytestvére és édesapja, valamint leány féltestvére nem bizonyult MLPA-vizsgálattal MECP2 -duplikációsnak. A tüneteket mutató édesanyánál a proband genotípusával megegyező eltérést azonosítottunk. Az édesanya újabb párkapcsolatából fogant várandósságában elvégzett magzati MLPA-vizsgálat a fiúmagzatban kimutatta a családban azonosított MECP2 -duplikációt, a kariotipizálás pedig 21-triszómiát mutatott. A várandós nő a két egymástól független magzati kórállapot miatt kérte a terhesség megszakítását. Az általunk bemutatott eset tanulsága, hogy nem tisztázott fejlődési elmaradással jelentkező páciensek esetén a G-sáv-technikával elvégzett karyotypus-elemzés megfelelő MLPA-vizsgálattal történő kiegészítése segíthet a genotípus-fenotípus összefüggések felállításában és genetikai diagnózis esetén a praenatalis diagnosztika megszervezésében. Orv Hetil. 2024; 165(1): 30–34.},
	year = {2024},
	eissn = {1788-6120},
	pages = {30-34},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:34543229,
	title = {Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations},
	url = {https://m2.mtmt.hu/api/publication/34543229},
	author = {Nagy, Zsófia Flóra and Pál, Margit and Engelhardt, József István and Molnár, Mária Judit and Klivényi, Péter and Széll, Márta},
	doi = {10.1186/s12920-024-01807-9},
	journal-iso = {BMC MED GENOMICS},
	journal = {BMC MEDICAL GENOMICS},
	volume = {17},
	unique-id = {34543229},
	issn = {1755-8794},
	year = {2024},
	eissn = {1755-8794},
	orcid-numbers = {Engelhardt, József István/0000-0002-9880-1441; Molnár, Mária Judit/0000-0001-9350-1864; Klivényi, Péter/0000-0002-5389-3266; Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:34531433,
	title = {Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease},
	url = {https://m2.mtmt.hu/api/publication/34531433},
	author = {Nagy, Nikoletta and Pál, Margit and Kun, József and Gálik, Bence and Urban, Peter and Medvecz, Márta and Fabos, Beata and Neller, Alexandra and Abdolreza, Aliasgari and Danis, Judit and Szabó, Viktória and Yang, Zhuo and Fenske, Stefanie and Biel, Martin and Gyenesei, Attila and Ádám, Éva and Széll, Márta},
	doi = {10.3390/ijms25021271},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34531433},
	issn = {1661-6596},
	abstract = {Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene albinism panel, the genetic background of 11 of the 17 Hungarian patients was elucidated. In patients with unidentified genetic backgrounds (n = 6), whole exome sequencing was performed. Our investigations revealed a novel, previously unreported rare variant (N687S) of the two-pore channel two gene (TPCN2). The N687S variant of the encoded TPC2 protein is carried by a 15-year-old Hungarian male albinism patient and his clinically unaffected mother. Our segregational analysis and in vitro functional experiments suggest that the detected novel rare TPCN2 variant alone is not a disease-causing variant in albinism. Deep genetic analyses of the family revealed that the patient also carries a phenotype-modifying R305W variant of the OCA2 protein, and he is the only family member harboring this genotype. Our results raise the possibility that this digenic combination might contribute to the observed differences between the patient and the mother, and found the genetic background of the disease in his case.},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Nagy, Nikoletta/0000-0001-8576-7953; Pál, Margit/0000-0003-3662-0837; Gálik, Bence/0000-0002-3949-7005; Urban, Peter/0000-0003-4043-3428; Medvecz, Márta/0000-0002-3126-096X; Danis, Judit/0000-0002-0270-5309; Fenske, Stefanie/0000-0002-6994-8401; Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:34505540,
	title = {A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder},
	url = {https://m2.mtmt.hu/api/publication/34505540},
	author = {Nagy, Nikoletta and Pál, Margit and Nagy, Dóra and Bokor, Barbara Anna and Zimmermann, Aliz and Gellén, Balázs and Salamon, András and Sztriha, László and Klivényi, Péter and Széll, Márta},
	doi = {10.1186/s12887-023-04509-w},
	journal-iso = {BMC PEDIATR},
	journal = {BMC PEDIATRICS},
	volume = {24},
	unique-id = {34505540},
	issn = {1471-2431},
	abstract = {We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.Using WES, we identified a novel, de novo frameshift variant (c.1902dupG, p.Ala636SerfsTer12) of the catenin beta-1 (CTNNB1) gene. Assessment of the novel CTNNB1 variant suggested that it is a likely pathogenic one and raised the diagnosis of CTNNB1 neurodevelopmental disorder (OMIM 615,075).Our manuscript may contribute to the better understanding of the genetic background of the recently discovered CTNNB1 neurodevelopmental disorder and raise awareness among clinicians and geneticists. The affected Hungarian family demonstrates that based on the results of the clinical workup is difficult to establish the diagnosis and high-throughput genetic screening may help to solve these complex cases.},
	keywords = {High-throughput; Whole exome sequencing; neurodevelopmental disorder; CTNNB1; Truncating},
	year = {2024},
	eissn = {1471-2431},
	orcid-numbers = {Salamon, András/0000-0002-9946-8230; Klivényi, Péter/0000-0002-5389-3266; Széll, Márta/0000-0002-0730-714X}
}

@misc{MTMT:34761280,
	title = {Fenotípus módosító faktorok ritka betegségekben},
	url = {https://m2.mtmt.hu/api/publication/34761280},
	author = {Nagy, Nikoletta and Pál, Margit and Neller, Alexandra and Judit, Danis and Ádám, Éva and Széll, Márta},
	unique-id = {34761280},
	year = {2023},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@CONFERENCE{MTMT:34761045,
	title = {Epigenetikai vizsgálatok a fenotípusbeli variabilitás hátterében álló különbségek azonosítására},
	url = {https://m2.mtmt.hu/api/publication/34761045},
	author = {Nagy, Nikoletta and Pál, Margit and Kun, József and Gálik, Bence and Urbán, Péter and Fábos, Beáta and Neller, Alexandra and Danis, Judit and Ádám, Éva and Gyenesei, Attila and Széll, Márta},
	booktitle = {A Magyar Humángenetikai és Genomikai Társaság XIV. Kongresszusa},
	unique-id = {34761045},
	year = {2023},
	pages = {1},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@CONFERENCE{MTMT:34761041,
	title = {A nemszindrómás hallásvesztés genetikai hátterének meghatározása kohleáris implantátummal rendelkező Magyarországi populációban},
	url = {https://m2.mtmt.hu/api/publication/34761041},
	author = {Pál, Margit and Nagy, Dóra and Neller, Alexandra and Farkas, Katalin and Leprán-Török, Dóra and Nagy, Nikoletta and Füstös, Dalma and Nagy, Roland and Rovó, László and Kis, József Géza and Széll, Márta},
	booktitle = {A Magyar Humángenetikai és Genomikai Társaság XIV. Kongresszusa},
	unique-id = {34761041},
	year = {2023},
	pages = {1},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@CONFERENCE{MTMT:34760957,
	title = {Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients},
	url = {https://m2.mtmt.hu/api/publication/34760957},
	author = {Pál, Margit and Nagy, Dóra and Neller, Alexandra and Katalin, Farkas and Dóra, Leprán-Török and Nagy, Nikoletta and Dalma, Füstös and Roland, Nagy and Adrienne, Németh and Judit, Szilvássy and László, Rovó and József, Géza Kiss and Széll, Márta},
	booktitle = {European Human Genetics Conference; Hybrid Conference, Glasgow, Scotland, UK, June 10–13, 2023},
	unique-id = {34760957},
	year = {2023},
	pages = {1},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@CONFERENCE{MTMT:34760850,
	title = {Genetikai vizsgálatok fokális dystoniával diagnosztizált magyar betegek körében},
	url = {https://m2.mtmt.hu/api/publication/34760850},
	author = {Nagy, Zsófia Flóra and Salamon, András and Pál, Margit and Szabó, Máté and Csősz, Ádám and Szpisjak, László and Gárdián, Gabriella and Zádori, Dénes and Széll, Márta and Klivényi, Péter},
	booktitle = {Magyar Klinikai Neurogenetikai Társaság XX. Konferenciája},
	unique-id = {34760850},
	year = {2023},
	pages = {1},
	orcid-numbers = {Széll, Márta/0000-0002-0730-714X}
}

@article{MTMT:34075230,
	title = {Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants},
	url = {https://m2.mtmt.hu/api/publication/34075230},
	author = {Salamon, András and Nagy, Zsófia Flóra and Pál, Margit and Szabó, M. and Csősz, Á. and Szpisjak, László and Gárdián, Gabriella and Zádori, Dénes and Széll, Márta and Klivényi, Péter},
	doi = {10.3390/ijms241310745},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {24},
	unique-id = {34075230},
	issn = {1661-6596},
	abstract = {Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region. © 2023 by the authors.},
	keywords = {Adult; Adult; Middle Aged; Middle Aged; Humans; GENETICS; human; Hungary; Hungary; genetic screening; blepharospasm; blepharospasm; blepharospasm; cervical dystonia; Genetic; Genetic Testing; Dystonia; torticollis; torticollis; dystonic disorder; Dystonic Disorders; focal},
	year = {2023},
	eissn = {1422-0067},
	orcid-numbers = {Salamon, András/0000-0002-9946-8230; Zádori, Dénes/0000-0003-0749-7980; Széll, Márta/0000-0002-0730-714X; Klivényi, Péter/0000-0002-5389-3266}
}