Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Darina Durovcikova"'
Autor:
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
ABSTRACT Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized
Externí odkaz:
https://doaj.org/article/25fb7753fd374e0cb98cade89e2bc9c6
Autor:
Ludovit Kadasi, Eveline Fiedler, Gabriel Minarik, Tomáš Szemes, Jan Radvanszky, Michaela Hyblova, Jan Turna, Martina Hikkelova, Darina Durovcikova
Publikováno v:
Clinical Genetics. 91:339-343
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GTPTS) are clinically similar disorders with some overlapping features. Although they are currently considered to be distinct clinical entities, both were found to be c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2485bbcddc4cbf1ee6db2a9122914ea2
https://doi.org/10.1111/cge.12840
https://doi.org/10.1111/cge.12840
Autor:
László Kovács, Darina Durovcikova, Andrea Zatkova, M. Holobradá, Pozgayova S, Anna Bolcekova, Denisa Ilencikova, Gerinec A, Martina Nemethova, K. Husáková, Katarina Hlinkova, Pavlovicova Z, Anna Hlavatá, Ludevit Kadasi
Publikováno v:
Neoplasma. 60:655-665
Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations in patients with NF1 may help to determine the risk group for developing complications such as OPG in coincidence w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1414592c9ca08d65536f8ef2028cdea1
https://doi.org/10.4149/neo_2013_084
https://doi.org/10.4149/neo_2013_084
Autor:
László Kovács, Anna Hlavatá, Andrea Zatkova, Ludevit Kadasi, Anna Bolcekova, Katarina Hlinkova, Denisa Ilencikova, Darina Durovcikova, Martina Nemethova
Publikováno v:
Annals of Human Genetics. 77:364-379
Summary We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had cafe-au-lait spots, 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4688f7417b00fc50a9d597e9f1ee156a
https://doi.org/10.1111/ahg.12026
https://doi.org/10.1111/ahg.12026
Autor:
Martina, Nemethova, Anna, Bolcekova, Denisa, Ilencikova, Darina, Durovcikova, Katarina, Hlinkova, Anna, Hlavata, Laszlo, Kovacs, Ludevit, Kadasi, Andrea, Zatkova
Publikováno v:
Annals of human genetics. 77(5)
We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had café-au-lait spots, 85% had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ba31c29d344256e0e1c9ba169e9f6ef
https://pubmed.ncbi.nlm.nih.gov/23758643
https://pubmed.ncbi.nlm.nih.gov/23758643