ReviewJournal of medical genetics1996
Nijmegen breakage syndrome.
Review in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 375 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.European journal of human genetics : EJHG · 2024Article
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.eLife · 2021Article
- New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).Orphanet journal of rare diseases · 2021Article
- Nijmegen breakage syndrome: case report and review of literature.The Pan African medical journal · 2020Review
- DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.Frontiers in pediatrics · 2020Review
- Non-Hodgkin Lymphoma Secondary to Hodgkin Lymphoma in an Adult Patient With Nijmegen Breakage Syndrome.HemaSphere · 2018Article
- Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.Journal of clinical immunology · 2017Article
- Epidermal Nbn deletion causes premature hair loss and a phenotype resembling psoriasiform dermatitis.Oncotarget · 2016Article
- Copy number deletion of RAD50 as predictive marker of BRCAness and PARP inhibitor response in BRCA wild type ovarian cancer.Gynecologic oncology · 2016Article
- Cancers Related to Immunodeficiencies: Update and Perspectives.Frontiers in immunology · 2016Review
- Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.Breast cancer research : BCR · 2014Article
- An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma.BMC hematology · 2014Article
- Ocular involvement in primary immunodeficiency diseases.Journal of clinical immunology · 2014Review
- Review
- Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.Journal of applied genetics · 2012Article
- Nijmegen breakage syndrome (NBS).Orphanet journal of rare diseases · 2012Review
- Primary immunodeficiency diseases associated with neurologic manifestations.Journal of clinical immunology · 2012Review
- Correct end use during end joining of multiple chromosomal double strand breaks is influenced by repair protein RAD50, DNA-dependent protein kinase DNA-PKcs, and transcription context.The Journal of biological chemistry · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.