Nijmegen breakage syndrome (Q33683220)

28 July 2017

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title

Nijmegen breakage syndrome (English)

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28 July 2017

van der Burgt I

1

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28 July 2017

Chrzanowska KH

series ordinal

2

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28 July 2017

Smeets D

series ordinal

3

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28 July 2017

Weemaes C

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 February 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

2

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28 July 2017

page(s)

153-156

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Postmortem findings in the Nijmegen breakage syndrome.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

A new chromosomal instability disorder: the Nijmegen breakage syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

A new chromosomal instability disorder confirmed by complementation studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

Further delineation of the Nijmegen breakage syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

Unusual T cell clones in a patient with Nijmegen breakage syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

Maternal age, somatic mosaicism, and Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

Sixth international workshop on ataxia-telangiectasia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051843

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

30 October 2018

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12 December 2020

Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses

1 reference

12 December 2020

A chromosomal breakage syndrome with profound immunodeficiency

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

First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis

1 reference

12 December 2020

Prenatal Diagnosis of Ataxia-telangiectasia and Nijmegen Breakage Syndrome by the Assay of Radioresistant DNA Synthesis

1 reference

12 December 2020

Nijmegen Breakage Syndrome: a progress report

1 reference

12 December 2020

Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-q23.

1 reference

12 December 2020

Nijmegen Breakage syndrome: a progress report

1 reference

12 December 2020

Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome Ilq22-q23.

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.2.153

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28 July 2017

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28 July 2017

1 reference