• A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management
• A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma
• A Rare Case of Early T-Precursor Lymphoblastic Lymphoma (ETP-LBL) in a Child With Nijmegen Breakage Syndrome
• A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome
• A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex
• Accuracy of unilateral and bilateral gait assessment using a mobile gait analysis system at different walking speeds
• An <em>in-silico</em> analysis to identify structural, functional and regulatory role of SNPs in <em>hMRE11</em>
• An electrocardiographic score to predict pulmonary hypertension in children with atrial septal defect
• Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome
• Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk
• Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population
• Attenuating the DNA damage response to double-strand breaks restores function in models of CNS neurodegeneration
• Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism
• Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
• Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype
• Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders
• Chromosome instability syndromes
• Chromosome Instability Syndromes
• Chromosome Instability Syndromes
• Chromothripsis and DNA Repair Disorders
• Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome
• Clinical characterisation of patients in the post-acute stage of anti-NMDA receptor encephalitis: a prospective cohort study and comparison with patients with schizophrenia spectrum disorders
• Complex profile of multiple hepatobiliary and gastrointestinal complications after hematopoietic stem cell transplantation in a child with Nijmegen breakage syndrome
• Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders
• Correction to "Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome"
• Correction to: Positive diepoxybutane test in a patient with Nijmegen breakage syndrome, by Marta S Gallego, C Z Barreiro, S Danielian, S D Rosenweig (Pediatr Blood Cancer. 2007 Jul;49(1):110; https://doi.org/10.1002/pbc.20941; PMID: 16862537)
• Development of an Effective Immune Response in Adults With Down Syndrome After Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Vaccination
• Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies
• Dissection of DNA damage and repair pathways in live cells by femtosecond laser microirradiation and free-electron modeling
• DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility
• DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns
• E2F1 acetylation directs p300/CBP-mediated histone acetylation at DNA double-strand breaks to facilitate repair
• Early hyperdopaminergic state following sub-thalamic nucleus deep brain stimulation in Parkinson disease
• Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe
• Effect of multimodal rheumatologic complex treatment in patients with axial spondylarthritis : A systematic evaluation with standardized outcome parameters, such as the ASAS Health Index
• Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study
• Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and <em>NBN</em> Founder Variant c.657_661del5
• Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5
• Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children
• Germline Genetic <em>NBN</em> Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children
• Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children
• Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children
• Glucose control during pregnancy in patients with type 1 diabetes correlates with fetal hemodynamics: a prospective longitudinal study
• GSTpi reduces DNA damage and cell death by regulating the ubiquitination and nuclear translocation of NBS1
• Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders
• Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
• Hepatitis B virus preS2Δ38-55 variants: A newly identified risk factor for hepatocellular carcinoma
• Human RAD50 deficiency: Confirmation of a distinctive phenotype
• Impact of Covid-19 Pandemic on the Effectiveness of Outpatient Counseling in Childhood Obesity Management
• Impact of Greater Occipital Nerve Block on Photophobia Levels in Migraine Patients
• Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids
• Impairment of sirtuin 1-mediated DNA repair is involved in bisphenol A-induced aggravation of macrophage inflammation and atherosclerosis
• Infections in DNA Repair Defects
• Maternal Predictors of Breast Milk Plasmalogens and Associations with Infant Body Composition and Neurodevelopment
• Metabolic Slowing Vanished 5 Years After Sleeve Gastrectomy in Patients With Obesity and Prediabetes/Diabetes
• Metastasis of ovarian cancer to nasal skin and skin on the trunk: a rare case report
• Modeling cancer genomic data in yeast reveals selection against ATM function during tumorigenesis
• MRN Complex and Cancer Risk: Old Bottles, New Wine
• MYC/NBS1-Mediated DNA Damage Response is Involved in the Inhibitory Effect of Hydroxysafflor Yellow A on Glioma Cells
• Nbn-Mre11 interaction is required for tumor suppression and genomic integrity
• NBS1 interacts with HP1 to ensure genome integrity
• NBS1 interacts with Notch signaling in neuronal homeostasis
• NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis
• NBS1 lactylation is required for efficient DNA repair and chemotherapy resistance
• NBS1 protein from Physcomitrium patens confers protection against oxidative damage by limiting the accumulation of cellular reactive oxygen species
• NBS1-CtIP-mediated DNA end resection suppresses cGAS binding to micronuclei
• Nbs1-mediated DNA damage repair pathway regulates haematopoietic stem cell development and embryonic haematopoiesis
• Neurological involvement in patients with primary immunodeficiency
• Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
• Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
• Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia
• Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
• Nijmegen breakage syndrome: case report and review of literature
• Non-Hodgkin Lymphoma Secondary to Hodgkin Lymphoma in an Adult Patient With Nijmegen Breakage Syndrome
• Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up
• Phosphorylated Hsp27 promotes adriamycin resistance in breast cancer cells through regulating dual phosphorylation of c-Myc
• Plasma Circulating Cell-free DNA in Advanced Hepatocellular Carcinoma Patients Treated With Radiation Therapy
• Prenatal polycyclic aromatic hydrocarbon (PAH) exposure in relation to placental corticotropin releasing hormone (pCRH) in the CANDLE pregnancy cohort
• Protein Arginine Methyltransferase 1 Is Essential for the Meiosis of Male Germ Cells
• Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome
• Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations
• Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases
• ROS-dependent DNA damage and repair during germination of NaCl primed seeds
• Safety and effectiveness of intravitreal dexamethasone implant in patients with ocular toxocariasis
• Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas
• Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers High-Grade Gliomas (HGG)
• Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes
• Subcutaneous injection of infliximab CT-P13 results in stable drug levels within 14-day treatment cycle in Crohn's disease
• Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer
• T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway
• Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
• The Essential DNA Damage Response Complex MRN Is Dispensable for the Survival and Function of Purkinje Neurons
• The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation
• The Replisome Mediates A-NHEJ Repair of Telomeres Lacking POT1-TPP1 Independently of MRN Function
• Time is the enemy: Negative symptoms are related to even slight differences in the duration of untreated psychosis
• Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRalphabeta/CD19 Depletion in Nijmegen Breakage Syndrome
• Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome
• Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation
• Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency
• Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness