Nijmegen breakage syndrome (NBS) (Q21202860)

18 August 2022

1

Krystyna H

Chrzanowska

Krystyna H Chrzanowska

1 reference

18 August 2022

2

Hanna

Gregorek

Hanna Gregorek

1 reference

18 August 2022

Maria A Kalina

4

Maria A

Kalina

1 reference

1033146789

18 August 2022

Martin Digweed

series ordinal

5

author given names

Martin

author last names

Digweed

1 reference

1033146789

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

28 February 2012

1 reference

24 March 2019

1 reference

24 March 2019

7

0 references

issue

1

0 references

page(s)

13

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copyright license

Creative Commons Attribution 2.0 Generic

1 reference

Europe PubMed Central

on focus list of Wikimedia project

24 March 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

SIRT1 regulates the function of the Nijmegen breakage syndrome protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

ATM-dependent phosphorylation of nibrin in response to radiation exposure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Fertility defects revealing germline biallelic nonsense NBN mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Interaction of FANCD2 and NBS1 in the DNA damage response

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A new chromosomal instability disorder: the Nijmegen breakage syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nibrin functions in Ig class-switch recombination

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Double-staining chromogenic in situ hybridization as a useful alternative to split-signal fluorescence in situ hybridization in lymphoma diagnostics

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Translocation detection in lymphoma diagnosis by split-signal FISH: a standardised approach

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Fanconi anemia and its diagnosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Guidelines for molecular karyotyping in constitutional genetic diagnosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Cerebral developmental disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Structural basis for phosphorylation-dependent signaling in the DNA-damage response

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Functional human telomeres are recognized as DNA damage in G2 of the cell cycle

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

DNA lesions and repair in immunoglobulin class switch recombination and somatic hypermutation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

p73 induction after DNA damage is regulated by checkpoint kinases Chk1 and Chk2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Ataxia-telangiectasia, an evolving phenotype

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Requirement of the MRN complex for ATM activation by DNA damage

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The inherited basis of human radiosensitivity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The use of microarray technology for cytogenetics

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The effects of NBS1 knockdown by small interfering RNA on the ionizing radiation-induced apoptosis in human lymphoblastoid cells with different p53 status

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nbs1 is required for ATR-dependent phosphorylation events

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome diagnosed as Fanconi anaemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

V(D)J rearrangement in Nijmegen breakage syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A new chromosomal instability disorder confirmed by complementation studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Reduced telomere length in ataxia-telangiectasia fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Possible new variant of Nijmegen breakage syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Oral findings in patients with Nijmegen breakage syndrome: a preliminary study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Mild Nijmegen breakage syndrome phenotype due to alternative splicing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Cranial MRI in the Nijmegen breakage syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Postmortem findings in the Nijmegen breakage syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A new chromosome instability disorder.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Further delineation of the Nijmegen breakage syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Unusual T cell clones in a patient with Nijmegen breakage syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Karyotype instability with multiple 7/14 and 7/7 rearrangements

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

A novel mutation and novel features in Nijmegen breakage syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Nijmegen Breakage Syndrome mutations and risk of breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Cancer risk of heterozygotes with the NBN founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Ataxia without telangiectasia masquerading as benign hereditary chorea

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

NBS1 is a prostate cancer susceptibility gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Prognostic impact of immunohistochemical biomarkers in diffuse large B-cell lymphoma in the rituximab era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: analysis of 19 patients from the BFM trials.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-13

The relationship of hepatitis B virus infection and non-Hodgkin's lymphoma and its impact on clinical characteristics and prognosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

E2F1 uses the ATM signaling pathway to induce p53 and Chk2 phosphorylation and apoptosis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314554

Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome

29 November 2018

1 reference

12 December 2020

Aplastic anemia in Nijmegen breakage syndrome

1 reference

12 December 2020

A chromosomal breakage syndrome with profound immunodeficiency

1 reference

12 December 2020

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

1 reference

12 December 2020

Germline 657del5 mutation in the NBS1 gene in breast cancer patients

1 reference

12 December 2020

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)

1 reference

12 December 2020

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability

1 reference

12 December 2020

Positive diepoxybutane test in a patient with Nijmegen breakage syndrome

1 reference

12 December 2020

Nijmegen breakage syndrome

1 reference

12 December 2020

Anthracyclines in Nijmegen breakage syndrome

1 reference

12 December 2020

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

1 reference

12 December 2020

Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

1 reference

12 December 2020

Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome

1 reference

12 December 2020

Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients

1 reference

12 December 2020

Alternative end joining during switch recombination in patients with ataxia-telangiectasia

1 reference

12 December 2020

Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials

1 reference

12 December 2020

Successful SCT for Nijmegen breakage syndrome

1 reference

12 December 2020

Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia

1 reference

12 December 2020

[Nijmegen breakage syndrome associated with pulmonary lymphoma]

1 reference

12 December 2020

Chromosomal instability in two siblings with gonad deficiency: case report

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-13

1 reference

1216368

1033146789

0 references

1216368

1 reference

1 reference

1 reference