Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Nijmegen breakage syndrome.

Journal of medical genetics - 1 Feb 1996

van der Burgt I, Chrzanowska K H, Smeets D, Weemaes C

Abstract excerpt

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,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Diagnosis, Differential
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

Share to Intellectual Disability

Share to Neoplasms

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 8929954
DOI: 10.1136/jmg.33.2.153
PMCID: PMC1051843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nijmegen breakage syndrome.PMID 8929954Read ↗

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.Semantic proximity Read ↗

Nijmegen breakage syndrome (NBS)Semantic proximity Read ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective AnalysisSemantic proximity Read ↗

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.Semantic proximity Read ↗

Variants of Nijmegen breakage syndrome and ataxia telangiectasia.Semantic proximity Read ↗

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.Semantic proximity Read ↗

Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.Semantic proximity Read ↗

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Semantic proximity Read ↗

Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies.Semantic proximity Read ↗

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.Semantic proximity Read ↗

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.