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Search for publications relevant for "nijmegen-breakage-syndrome"
nijmegen-breakage-syndrome
Publication
Class
Person
Publication
Programmes
publication
Nijmegen Breakage Syndrome - neglected primary immunodeficiency
2012 |
Second Faculty of Medicine
publication
Nijmegen breakage syndrome in Slovakia
2004 |
Second Faculty of Medicine
publication
Nijmegen Breakage Syndrome (NBS)
1999 |
Second Faculty of Medicine
publication
Increased Risk of Malignancies in Heterozygotes in Families of Patients with Nijmegen Breakage Syndrome
2006 |
Second Faculty of Medicine
publication
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly
2004 |
Second Faculty of Medicine
publication
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
1997 |
Second Faculty of Medicine
publication
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
2020 |
Second Faculty of Medicine
publication
Nijmegen breakage syndrome
2000 |
Second Faculty of Medicine
publication
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
2006 |
Second Faculty of Medicine
publication
Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay
2006 |
Second Faculty of Medicine
publication
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
2009 |
Second Faculty of Medicine
publication
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein
2007 |
Second Faculty of Medicine
publication
Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients
2008 |
Second Faculty of Medicine
publication
Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome
1998 |
Second Faculty of Medicine
publication
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
2000 |
Second Faculty of Medicine
publication
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit
2001 |
Second 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
Syndromes of chromosomal instability
2014 |
Second Faculty of Medicine
publication
Cancer risk of heterozygotes with the NBN founder mutation
2007 |
Second Faculty of Medicine
publication
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents
2016 |
Second Faculty of Medicine
publication
Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer
2011 |
Second Faculty of Medicine
publication
Mutations in tumor suppressor gene NBS1 in adult patients with malignancies
2006 |
Second Faculty of Medicine
publication
Tumor supressor gene NBS1 among children patients with malignancies
2004 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic
2009 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations
2022 |
First Faculty of Medicine
publication
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation
2023 |
Second Faculty of Medicine
publication
Eva Seemanova 80 Years - International Medical Genetics, Prague 1971-2016
2019 |
Second Faculty of Medicine