Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Gergely, Büki"'
Autor:
Zsolt Bánfai, Gergely Büki, Valerián Ádám, Katalin Sümegi, András Szabó, Kinga Hadzsiev, Krisztián Erős, Ferenc Gallyas, Attila Miseta, Miklós Kásler, Béla Melegh
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background The Csangos are an East-Central European ethnographic group living mainly in east of Transylvania in Romania. Traditionally, ethnography distinguishes three Csango subpopulations, the Moldavian, Gyimes and Burzenland Csangos. In o
Externí odkaz:
https://doaj.org/article/9184416931fb4eaca715a538d0019f2b
Autor:
Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto, Gergely Büki, László Kereskai, Zsuzsanna Herbert, Kinga Hadzsiev, Judit Bene
Publikováno v:
Pathology and Oncology Research, Vol 30 (2024)
Background: Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%–70% of patients with Gardner
Externí odkaz:
https://doaj.org/article/bd5a66604b974edfb4ce27256f95c395
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8189 (2024)
APC is a tumor suppressor gene that exerts its effect through the regulation of the Wnt signaling pathway. Loss of function mutations of the gene are associated with familial adenomatous polyposis (FAP). Early diagnosis in FAP patients is essential t
Externí odkaz:
https://doaj.org/article/71283fd92b4d42f983a65d830e4ddbe2
Autor:
Zsolt Bánfai, Erzsébet Kövesdi, Katalin Sümegi, Gergely Büki, András Szabó, Lili Magyari, Valerián Ádám, Ferenc Pálos, Attila Miseta, Miklós Kásler, Béla Melegh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background German-derived ethnicities are one of the largest ethnic groups in Hungary, dating back to the formation of the Kingdom of Hungary, which took place at the beginning of the 11th century. Germans arrived in Hungary in many waves. T
Externí odkaz:
https://doaj.org/article/800fd80deb8c4610a9d248e581b683f2
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13671 (2023)
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the
Externí odkaz:
https://doaj.org/article/62eea74d78524b10975c6af366351f13
Autor:
Gergely Büki, Anna Bekő, Csaba Bödör, Péter Urbán, Krisztina Németh, Kinga Hadzsiev, György Fekete, Hildegard Kehrer-Sawatzki, Judit Bene
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 17, p 13580 (2023)
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdel
Externí odkaz:
https://doaj.org/article/8ea5fea18d2e475a91b90c63dbdcfd2e
Autor:
Gábor Ternák, Gergely Márovics, Katalin Sümegi, Zsolt Bánfai, Gergely Büki, Lili Magyari, András Szabó, Béla Melegh
Publikováno v:
Antibiotics, Vol 12, Iss 6, p 1029 (2023)
Down syndrome (DS) is a leading human genomic abnormality resulting from the trisomy of chromosome 21. The genomic base of the aneuploidy behind this disease is complex, and this complexity poses formidable challenges to understanding the underlying
Externí odkaz:
https://doaj.org/article/5d4ecc5d2ef84b1faaecd223f999d0e8
Autor:
Valerián Ádám, Zsolt Bánfai, Katalin Sümegi, Gergely Büki, András Szabó, Lili Magyari, Attila Miseta, Miklós Kásler, Béla Melegh
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Genome-wide genotype data from 48 carefully selected population samples of Transylvania-living Szeklers and non-Szekler Hungarians were analyzed by comparative analysis. Our analyses involved contemporary Hungarians living in Hungary, other Europeans
Externí odkaz:
https://doaj.org/article/46fcf08729ed41d18ca4250e3d46eab0
Autor:
Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi, Béla Melegh, Kinga Hadzsiev, Judit Bene
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in NF1 gene, large deletions encompassing the NF1 gene and its flanking regions are responsible for
Externí odkaz:
https://doaj.org/article/75ba48179dad408ba1fdbce5d024c1ba
Publikováno v:
Orvosi Hetilap. 163:2041-2051
Az 1-es típusú neurofibromatosis autoszomális domináns öröklésmenetet mutató, klinikailag rendkívül heterogén neurocutan kórkép, amelynek kialakulásában elsődlegesen az NF1-gén intragenikus funkcióvesztéses mutációi játszanak sz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdbc17797345480b0d8e2d4e65754502
https://doi.org/10.1556/650.2022.32673
https://doi.org/10.1556/650.2022.32673