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dependent probe amplification
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doc. MUDr. Petr Pohlreich CSc.
Academic staff at First Faculty of Medicine
99 publications
Publications
publication
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
2013 |
First Faculty of Medicine
publication
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
2011 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
2010 |
First Faculty of Medicine
publication
Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.
2009 |
First Faculty of Medicine
publication
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic
2015 |
First Faculty of Medicine
publication
Expression of human BRCA1 Delta 17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
2013 |
First Faculty of Medicine
publication
The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Germline mutations 657del5 and 643C > T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women
2012 |
First Faculty of Medicine
publication
The clinical importance of a genetic analysis of moderate-risk cancer susceptibility genes in breast and other cancer patients from the Czech Republic
2012 |
First Faculty of Medicine
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