Works matching DE "NIJMEGEN breakage syndrome"
Results: 29
Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.
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- Biomolecules (2218-273X), 2015, v. 5, n. 3, p. 1990, doi. 10.3390/biom5031990
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- Publication type:
- Article
Reagent substitutions in the Centers for Disease Control and Prevention Nijmegen‐Bethesda assay for factor VIII inhibitors.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Clinical manifestations, toxicities, and outcome of two children with Nijmegen breakage syndrome and lymphoid malignancies -- case reports.
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- Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 1, p. 48, doi. 10.5114/polp.2022.114682
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- Article
Nijmegen Breakage Sendromlu Bir Olgunun Uzun Süreli izlemi.
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- Asthma Allergy Immunology / Astim Allerji Immunoloji, 2018, v. 16, n. 2, p. 104, doi. 10.21911/aai.10
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- Publication type:
- Article
A non-synonymous polymorphism in NBS1 is associated with progression from chronic hepatitis B virus infection to hepatocellular carcinoma in a Chinese population.
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- OncoTargets & Therapy, 2018, v. 11, p. 563, doi. 10.2147/OTT.S153538
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- Publication type:
- Article
NBN Gene Analysis and it's Impact on Breast Cancer.
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- Journal of Medical Systems, 2019, v. 43, n. 8, p. N.PAG, doi. 10.1007/s10916-019-1328-z
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- Article
Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8279560
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- Publication type:
- Article
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0364-6
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- Article
Identification of the Interactors of Human Nibrin (NBN) and of Its 26 kDa and 70 kDa Fragments Arising from the NBN 657del5 Founder Mutation.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114651
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- Article
Genetic testing for hereditary prostate cancer: Current status and limitations.
- Published in:
- 2018
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- Publication type:
- journal article
Microcephaly & the Zika Virus.
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- Dialog: Journal of the Texas Educational Diagnosticians Association, 2017, v. 46, n. 1, p. 17
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- Publication type:
- Article
Prospective study of a cohort of russian nijmegen Breakage syndrome Patients Demonstrating Predictive Value of low Kappa-Deleting recombination excision circle (Krec) numbers and Beneficial effect of hematopoietic stem cell Transplantation (hscT).
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- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00807
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- Publication type:
- Article
Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 2, p. 251, doi. 10.4274/jcrpe.galenos.2021.2021.0151
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- Publication type:
- Article
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 1, p. 32, doi. 10.1177/0883073814535501
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- Publication type:
- Article
Identification and characterization of a novel gene encoding the NBS1 protein in Pyricularia oryzae.
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- Bioscience, Biotechnology & Biochemistry, 2015, v. 79, n. 7, p. 1183, doi. 10.1080/09168451.2015.1015951
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- Publication type:
- Article
An Approach to Elucidate NBS1 Function in DNA Repair Using Frequent Nonsynonymous Polymorphism in Wild Medaka (Oryzias latipes) Populations.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170006
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- Publication type:
- Article
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167984
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- Publication type:
- Article
Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
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- BMC Cancer, 2014, v. 14, p. 1, doi. 10.1186/1471-2407-14-434
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- Publication type:
- Article
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
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- 2018
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- Publication type:
- Correction Notice
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
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- Journal of Clinical Immunology, 2017, v. 37, n. 2, p. 133, doi. 10.1007/s10875-016-0363-5
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- Publication type:
- Article
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
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- Journal of Clinical Immunology, 2015, v. 35, n. 6, p. 538, doi. 10.1007/s10875-015-0186-9
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- Publication type:
- Article
Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs).
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- Journal of Clinical Immunology, 2015, v. 35, n. 2, p. 227, doi. 10.1007/s10875-015-0136-6
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- Publication type:
- Article
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
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- Publication type:
- Article
Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.
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- Pediatric Transplantation, 2015, v. 19, n. 2, p. E51, doi. 10.1111/petr.12420
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- Publication type:
- Article
Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.
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- Cancers, 2022, v. 14, n. 8, p. 2000, doi. 10.3390/cancers14082000
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- Publication type:
- Article
NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.
- Published in:
- 2018
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- Publication type:
- journal article
Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 9, p. 1, doi. 10.1371/journal.pgen.1006282
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- Publication type:
- Article
The MRX Complex Ensures NHEJ Fidelity through Multiple Pathways Including Xrs2-FHA–Dependent Tel1 Activation.
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- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005942
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- Publication type:
- Article
DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8193892
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- Publication type:
- Article