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

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

Annals of agricultural and environmental medicine : AAEM - 24 Jun 2022

Filipiuk Aleksandra, Kozakiewicz Agata, Kośmider Kamil, Lejman Monika, Zawitkowska Joanna

Abstract excerpt

INTRODUCTION AND OBJECTIVE: Nijmegen breakage syndrome (NBS) is a rare chromosomal instability disorder. The majority of patients carry founder mutation in the NBN gene (c.657_661del5). Characteristic features of the NBS include progressive microcephaly, dysmorphic facial features, immunodeficiency, and high predisposition to malignancy with cumulative cancer incidence by the age of 20 years, and amounted to over...

Read the complete abstract on PubMed

Topics

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

Share to Acute Lymphoblastic Leukemia research
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Mechanisms

Share to Genotype

Share to Hematopoietic Stem Cell Transplantation

Share to Infant, Newborn

Share to Neoplasms

Share to Young Adult

Source

Identifiers

PMID: 35767752
DOI: 10.26444/aaem/143541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies.PMID 35767752Read ↗

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Semantic proximity Read ↗

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

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair DisordersSemantic proximity Read ↗

Nijmegen breakage syndrome (NBS)Semantic proximity Read ↗

Hereditary Conditions Associated with Elevated Cancer Risk in Childhood.Semantic proximity Read ↗

Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis.Semantic proximity Read ↗

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.Semantic proximity Read ↗

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical managementSemantic proximity Read ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.Semantic proximity Read ↗

Hereditary cancer syndromesSemantic proximity Read ↗

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsSemantic proximity Read ↗

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