(Q44203256)

English

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents

scientific article published in July 2004

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

1 reference

based on heuristic

inferred from title

Anne-Lise Børresen-Dale

7

object named as

A L Borresen-Dale

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

author name string

A Stray-Pedersen

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

T Jónsson

2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

A Heiberg

3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

C R Lindman

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

E Widing

5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

I S Aaberge

6

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

T G Abrahamsen

8

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

publication date

1 July 2004

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Clinical and Experimental Immunology

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

137

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

179-186

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

ATM and related protein kinases: safeguarding genome integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Humoral immunity to viral and bacterial antigens in lymphoma patients 4-10 years after high-dose therapy with ABMT. Serological responses to revaccinations according to EBMT guidelines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Immunogenetic analysis of the immune response to pneumococcal polysaccharide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Mutations associated with variant phenotypes in ataxia-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Modification of the ELISA for the estimation of tetanus antitoxin in human sera.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

An ELISA employing a Haemophilus influenzae type b oligosaccharide-human serum albumin conjugate correlates with the radioantigen binding assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

27 August 2018

ATM heterozygosity and cancer risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1809075

1 December 2018

Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoglobulins in ataxia-telangiectasia: evidence for IgG4 and IgA2 subclass deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human antibody response to a pneumococcal vaccine in SCID-PBL-hu mice and simultaneously vaccinated human cell donors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Ataxia-telangiectasia surveyed in Sweden]

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IgE in ataxia-telangiectasia and family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IgA deficiency in Czech healthy individuals and selected patient groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antipolysaccharide antibodies in 450 children with otitis media

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunologic studies in ataxia-telangiectasia. I. Delayed hypersensitivity and serum immune globulin levels in probands and first-degree relatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IgG2 deficiency in ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

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/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of diphtheria antitoxin by four different methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum immunoglobulinD in infants and children

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligo-/monoclonal gammopathy and hypergammaglobulinemia in ataxia-telangiectasia. A study of 90 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of immunological abnormalities in ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15196260

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2249.2004.02492.X

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q44203256&oldid=2108492506"