Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Renáta Szalai"'
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:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101056- (2024)
Background: Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapid turnaround time and high diagnostic rate when conventional tests are negative. Here we report a family with multiple pregnancy loss and with repeate
Externí odkaz:
https://doaj.org/article/ac7b525538d34fdeb4c993bd9a577b29
Autor:
Ágnes, Till, Renáta, Szalai, Márta, Hegyi, Erzsébet, Kövesdi, Gergely, Büki, Kinga, Hadzsiev, Béla, Melegh
Publikováno v:
Orvosi hetilap. 160(21)
The advances in molecular genetic methods has lead to the discovery of the genetic alterations that underlie the etiology of most diseases previously held to be idiopathic. Targeted genetic examination of a pediatric male patient showing a normal int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aee86bd22af7d951285cefbf1c149eeb
https://pubmed.ncbi.nlm.nih.gov/31104500
https://pubmed.ncbi.nlm.nih.gov/31104500
Publikováno v:
Immunology Quaterly / Immunológia Szemle; jul2021, Issue 2, p70-73, 4p
Autor:
Renata Szalai, Kinga Hadzsiev, Agnes Till, Andras Fogarasi, Timea Bodo, Gergely Buki, Zsolt Banfai, Judit Bene
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5732 (2024)
Developmental and epileptic encephalopathy-9 (DEE9) is characterized by seizure onset in infancy, mild to severe intellectual impairment, and psychiatric features and is caused by a mutation in the PCDH19 gene on chromosome Xq22. The rare, unusual X-
Externí odkaz:
https://doaj.org/article/d7f6422501e54743961171f407656f11
Autor:
Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Background Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the case
Externí odkaz:
https://doaj.org/article/7ce16cd1cc9e49f5ba2ae7f3306333a8