ℹ️
🇬🇧
Search
Search for publications relevant for "germ-line mutation"
germ-line mutation
Publication
Class
Person
Publication
Programmes
publication
Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women
2011 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Detection of germ line mutations in the BRCA1 gene by the protein truncation test.
1999 |
Faculty of Physical Education and Sport
publication
Detection of germ-line mutation in the BRCA 1 gene by the protein truncation test.
1999 |
Faculty of Physical Education and Sport
publication
Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera
2016 |
Faculty of Science
publication
Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera
2016 |
First Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
Second Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
Faculty of Medicine in Hradec Králové
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
First Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
First Faculty of Medicine
publication
A method for detection of germinal mutations in the p53 tumor suppressor gene
1996 |
Second Faculty of Medicine
publication
Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene
2011 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Third 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
Novel germline mutations in Czech FAP families
Publication without faculty affiliation
publication
Tumor suppressor genes
1997 |
Second Faculty of Medicine
publication
Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic
2004 |
Second Faculty of Medicine
publication
Insight into the pathogenesis of sporadic basal cell carcinoma
2004 |
Second Faculty of Medicine
publication
Birt-Hogg-Dubé syndrome
2012 |
Second Faculty of Medicine
publication
Testing of mutations in BRCA1 and BECA2 genes in tumor tissues - possibilities and limitations
2016 |
Faculty of Medicine in Hradec Králové
publication
Whole-body magnetic resonance imaging in pediatric oncology - recommendations by the Oncology Task Force of the ESPR
2020 |
Second Faculty of Medicine
publication
Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
1998 |
Second Faculty of Medicine
publication
Hereditary thyroid carcinoma and its molecular diagnostics
2014 |
Central Library of Charles University
publication
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
2015 |
First Faculty of Medicine
publication
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 |
Second Faculty of Medicine
publication
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC)
2015 |
Faculty of Medicine in Pilsen