Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome (Q36462922)

14 August 2017

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

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14 August 2017

S G Grant

1

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14 August 2017

S L Wenger

2

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14 August 2017

J J Latimer

3

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14 August 2017

D Thull

4

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14 August 2017

L W Burke

5

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14 August 2017

1 September 2000

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14 August 2017

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14 August 2017

58

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14 August 2017

3

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14 August 2017

209-215

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Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Human DNA repair systems: an overview

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Translocation of a UV-damaged DNA binding protein into a tight association with chromatin after treatment of mammalian cells with UV light.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Elevated DNA excision repair capacity in the extraembryonic mesoderm of the midgestation mouse embryo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Use of the glycophorin A human mutation assay to study workers exposed to styrene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Rothmund-Thomson syndrome: review of the world literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Sister chromatid exchange and proliferation pattern in lymphocytes from newborns, elderly subjects and in premature aging syndromes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Measurement of mutation frequency at the HPRT locus in peripheral lymphocytes. Is this a good method to evaluate a cancer risk in pediatric patients?

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4712958

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

21 September 2018

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12 December 2020

[Rothmund-Thomson syndrome with reduced DNA repair capacity]

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12 December 2020

A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutation frequency in human blood cells increases with age

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12 December 2020

"Isolated" radial ray defect may be due to Rothmund-Thomson syndrome

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12 December 2020

Excision repair defect in Rothmund Thomson syndrome

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12 December 2020

In vivo somatic mutations in Werner's syndrome

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12 December 2020

Investigations on dark repair in various light sensitive inherited disorders

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12 December 2020

Molecular analyses of in vivo hypoxanthine-guanine phosphoribosyltransferase mutations in human T-lymphocytes: II. Demonstration of a clonal amplification of hprt mutant T-lymphocytes in vivo

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12 December 2020

Somatic cell genotoxicity at the glycophorin A locus in humans

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12 December 2020

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

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12 December 2020

The effect of donor age on the processing of UV-damaged DNA by cultured human cells: reduced DNA repair capacity and increased DNA mutability

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12 December 2020

Chemical induction of sister chromatid exchange at fragile sites

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12 December 2020

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

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12 December 2020

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

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12 December 2020

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

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12 December 2020

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

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12 December 2020

DNA Damage and Repair in Light-Sensitive Human Skin Disease

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12 December 2020

Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay

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12 December 2020

10.1034/J.1399-0004.2000.580308.X

Identifiers

DOI

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14 August 2017

1 reference

14 August 2017

PubMed publication ID

11076043

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