(Q54856855)

English

Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.

scientific article published in May 2005

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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Stephen G Grant

4

1 reference

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10 January 2020

author name string

Viktoria N Evdokimova

1

1 reference

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10 January 2020

Reagan K McLoughlin

2

1 reference

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10 January 2020

Sharon L Wenger

3

1 reference

Europe PubMed Central

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10 January 2020

language of work or name

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publication date

1 May 2005

1 reference

Europe PubMed Central

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10 January 2020

American Journal of Medical Genetics

1 reference

Europe PubMed Central

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10 January 2020

135

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10 January 2020

1

1 reference

Europe PubMed Central

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10 January 2020

59-65

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Molecular epidemiology of human cancer: biomarkers of genotoxic exposure and susceptibility

1 reference

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8 June 2018

Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Evidence for increased somatic cell mutations in patients with hepatocellular carcinoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

MNSs and major glycophorins of human erythrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Simultaneous measurement of two cellular antigens and DNA using fluorescein-isothiocyanate, R-phycoerythrin, and propidium iodide on a standard FACScan.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

In vivo somatic mutation and segregation at the human glycophorin A (GPA) locus: phenotypic variation encompassing both gene-specific and chromosomal mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

The identification of fanconi anemia genotypes by clastogenic stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Segregation analysis with uncertain ascertainment: application to Fanconi anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Fanconi's anemia--chromosome breakage studies in homozygotes and heterozygotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Screening test for ataxia telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Frequency of variant erythrocytes at the glycophorin-A locus in two Bloom's syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

The effect of chemotherapy on the in vivo frequency of glycophorin A 'null' variant erythrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Fanconi anemia: a pleotropic mutation with multiple cellular and developmental abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

The assessment of in vivo somatic mutations in survivors of childhood malignancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Preliminary communication: prenatal detection of the Fanconi Anemia gene by cytogenetic methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

8 June 2018

Fanconi anemia: prenatal diagnosis in 30 fetuses at risk.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

16 June 2018

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

13 August 2018

Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

13 August 2018

Intercorrelations and sources of variability in three mutagenicity assays: a population-based study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849896

13 August 2018

Carcinogen-induced chromosome breakage in Fanconi's anaemia heterozygous cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensitivity of somatic mutations in human umbilical cord blood to maternal environments

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequencies of HPRT- lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation frequency in human blood cells increases with age

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo somatic mutations in Werner's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic cell genotoxicity at the glycophorin A locus in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of somatic mutations at the glycophorin A locus in erythrocytes of atomic bomb survivors using a single beam flow sorter

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous chromosome aberrations in familial panmyelopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic differentiation of Fanconi anemia, "idiopathic" aplastic anemia, and Fanconi anemia heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human in vivo somatic mutation measured at two loci: individuals with stably elevated background erythrocyte glycophorin A (gpa) variant frequencies exhibit normal T-lymphocyte hprt mutant frequencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome Abnormalities in Constitutional Aplastic Anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for increased somatic cell mutations at the glycophorin A locus in atomic bomb survivors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GPA in vivo somatic mutation assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/15822129

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.30687

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15822129%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

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