(Q35246426)

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

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3337113%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3337113%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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3

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23 September 2019

author name string

Jaspers NG

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3337113%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Taalman RD

2

1 reference

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23 September 2019

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publication date

1 January 1988

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23 September 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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23 September 2019

42

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23 September 2019

66-73

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Europe PubMed Central

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23 September 2019

1

1 reference

Europe PubMed Central

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23 September 2019

Radioresistant DNA synthesis: an intrinsic feature of ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

A new chromosomal instability disorder: the Nijmegen breakage syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Complementation of the defects of DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Bleomycin-resistant DNA synthesis in ataxia telangiectasia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Complementation analysis of ataxia-telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Autosomal recessive nonsyndromal microcephaly with normal intelligence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

A new chromosome instability disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

Unrepaired DNA strand breaks in irradiated ataxia telangiectasia lymphocytes suggested from cytogenetic observations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

12 July 2018

The response of ataxia-telangiectasia homozygous and heterozygous skin fibroblasts to neocarzinostatin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

26 September 2018

Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715319

26 September 2018

Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/3337113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A chromosomal breakage syndrome with profound immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3337113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A boy with congenital malformations and chromosome breakage

1 reference

https://pubmed.ncbi.nlm.nih.gov/3337113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia-telangiectasia: A multiparameter analysis of eight families

1 reference

https://pubmed.ncbi.nlm.nih.gov/3337113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3337113%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3337113%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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