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alterity
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doc. MUDr. Petr Pohlreich CSc.
Academic staff at First Faculty of Medicine
99 publications
Publications
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
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
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
Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.
2010 |
First Faculty of Medicine
publication
CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.
2010 |
First 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
The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population
2009 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Prerequisites for preimplantation genetic diagnosis (PGD in carriers of mutations responsible for hereditary cancers
2009 |
First Faculty of Medicine, Third 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
Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations
2008 |
First Faculty of Medicine
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