标题
Nijmegen breakage syndrome (NBS)
作者
关键词
-
出版物
Orphanet Journal of Rare Diseases
Volume 7, Issue 1, Pages 13
出版商
Springer Nature
发表日期
2012-02-28
DOI
10.1186/1750-1172-7-13
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients
- (2010) M. van der Burg et al. BLOOD
- Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy
- (2010) Hanna Gregorek et al. CLINICAL IMMUNOLOGY
- High prevalence of theNBN gene mutation c.657-661del5 in Southeast Germany
- (2010) M. Maurer et al. JOURNAL OF APPLIED GENETICS
- High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study
- (2010) Krystyna H. Chrzanowska et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Chronic Noninfectious Necrotizing Granulomas in a Child with Nijmegen Breakage Syndrome
- (2010) Curt A. Vogel et al. PEDIATRIC DERMATOLOGY
- Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
- (2009) Regina Waltes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Successful SCT for Nijmegen breakage syndrome
- (2009) M H Albert et al. BONE MARROW TRANSPLANTATION
- Prognostic impact of immunohistochemical biomarkers in diffuse large B-cell lymphoma in the rituximab era
- (2009) Ritsuko Seki et al. CANCER SCIENCE
- 14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response
- (2009) Duaa H. Mohammad et al. DNA REPAIR
- Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
- (2009) Stephan Lins et al. GENE
- Double-staining chromogenic in situ hybridization as a useful alternative to split-signal fluorescence in situ hybridization in lymphoma diagnostics
- (2009) A. van Rijk et al. HAEMATOLOGICA
- Fanconi anemia and its diagnosis
- (2009) Arleen D. Auerbach MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
- Cutaneous Noncaseating Granulomas Associated With Nijmegen Breakage Syndrome
- (2008) Jane Yoo et al. ARCHIVES OF DERMATOLOGY
- Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage–modified chromatin
- (2008) Fredrik Melander et al. JOURNAL OF CELL BIOLOGY
- Constitutive phosphorylation of MDC1 physically links the MRE11–RAD50–NBS1 complex to damaged chromatin
- (2008) Christoph Spycher et al. JOURNAL OF CELL BIOLOGY
- Addition of Rituximab to Standard Chemotherapy Improves the Survival of Both the Germinal Center B-Cell–Like and Non–Germinal Center B-Cell–Like Subtypes of Diffuse Large B-Cell Lymphoma
- (2008) Kai Fu et al. JOURNAL OF CLINICAL ONCOLOGY
- Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation
- (2008) M Gładkowska-Dura et al. JOURNAL OF PATHOLOGY
- Successful Treatment of Hodgkin Lymphoma in Nijmegen Breakage Syndrome
- (2008) Ankica Jovanovic et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)
- (2008) Bozenna Dembowska-Baginska et al. PEDIATRIC BLOOD & CANCER
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