Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Katarina Hlinkova"'
1
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
Autor: P. Kotnik, K. Poločková, S. Bertok, H.C. Duba, Ľ. Košťálová, R. Bertalan, M. Čizmárová, Z. Pribilincova, László Kovács, Denisa Ilencikova, Katarina Hlinkova, Anna Hlavatá
Publikováno v: Annals of Human Genetics. 80:50-62
We performed the genetic analysis of Rasopathy syndromes in patients from Central European by direct sequencing followed by next generation sequencing of genes associated with Rasopathies. All 51 patients harboured the typical features of Rasopathy s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06729c1131a3a664ee655a5e63bf14fa
https://doi.org/10.1111/ahg.12140
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2
Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma
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
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3
Thirty-Nine Novel Neurofibromatosis 1 (NF1)Gene Mutations Identified in Slovak Patients
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
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4
Rapid and Efficient Detection of EGFR Mutations in Problematic Cytologic Specimens by High-Resolution Melting Analysis
Autor: Ivan Majer, Peter Berzinec, Katarina Hlinkova, Denisa Ilencikova, Pavel Babal
Publikováno v: Molecular Diagnosis & Therapy. 15:21-29
Background and Objective: Chemotherapy for advanced non-small-cell lung cancer (NSCLC) remains marginally effective, with a 5-year overall survival rate of approximately 5%. Recently, the epidermal growth factor receptor (EGFR) tyrosine kinase inhibi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e93728ecdc1084fcb36a5fc433d065
https://doi.org/10.1007/bf03257190
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5
Evaluation of 2-year experience with EGFR mutation analysis of small diagnostic samples
Autor: Ivan Majer, Barbora Piackova, Pavel Babal, Zdenka Mikle-Barathova, Katarina Hlinkova, Peter Berzinec, Denisa Ilencikova
Publikováno v: Diagnostic molecular pathology : the American journal of surgical pathology, part B. 22(2)
Mutation analysis of the epidermal growth factor receptor (EGFR) gene is an essential part of the diagnostic algorithm in patients with metastatic or recurrent non-small cell lung cancer (NSCLC). Small biopsies or cytology specimens represent80% of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f812a7f19b7bfc482f6c7608a25a408
https://pubmed.ncbi.nlm.nih.gov/23628817
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6
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients
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
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