Chromosome instability and nibrin protein variants in NBS heterozygotes (Q73302618)

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2 November 2019

title

Chromosome instability and nibrin protein variants in NBS heterozygotes (English)

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2 November 2019

8

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2 November 2019

author name string

Caterina Tanzanella

1

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2 November 2019

Antonio Antoccia

2

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2 November 2019

Emanuela Spadoni

3

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2 November 2019

Alessandra di Masi

4

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2 November 2019

Vanna Pecile

5

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2 November 2019

Eliana Demori

6

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2 November 2019

Raymonda Varon

7

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2 November 2019

Luciano Tiepolo

9

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2 November 2019

Paola Maraschio

10

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2 November 2019

publication date

1 April 2003

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European Journal of Human Genetics

2 November 2019

language of work or name

English

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published in

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2 November 2019

volume

11

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2 November 2019

issue

4

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2 November 2019

page(s)

297-303

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Positional cloning of the gene for Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

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7 January 2021

Nijmegen breakage syndrome

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7 January 2021

Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

No evidence for deletions of the NBS1 gene in lymphomas

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

A novel mutation and novel features in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Anthracyclines in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Sister chromatid exchanges and structural chromosome aberrations in relation to age and sex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Sources of variation in patient response to radiation treatment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

A new chromosomal instability disorder: the Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

A new chromosome instability disorder.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Low dose hyper-radiosensitivity and increased radioresistance in mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

The forkhead-associated domain of NBS1 is essential for nuclear foci formation after irradiation but not essential for hRAD50[middle dot]hMRE11[middle dot]NBS1 complex DNA repair activity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200962

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200962

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12708449%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference