(Q33668827)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

title

A clinical study of a family with Cockayne's syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://api.crossref.org/works/10.1136/JMG.18.4.288

10 April 2024

author name string

R. Proops

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

10 April 2024

A. M. Taylor

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

10 April 2024

J. Insley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

10 April 2024

language of work or name

English

0 references

publication date

1 August 1981

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

full work available at URL

14 October 2019

https://jmg.bmj.com/content/jmedgenet/18/4/288.full.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7277423/?tool=EBI

10 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

http://jmg.bmjjournals.com/cgi/content/abstract/18/4/288

10 April 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7277423/pdf/?tool=EBI

10 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

https://europepmc.org/articles/PMC1048734

10 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

https://europepmc.org/articles/PMC1048734?pdf=render

10 April 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7277423

https://syndication.highwire.org/content/doi/10.1136/jmg.18.4.288

10 April 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.4.288

Journal of Medical Genetics

10 April 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

288-293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

A syndrome resembling progeria: A review of two cases

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

The Neuropathology of Cockayne's Syndrome*†

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Defective Repair Replication of DNA in Xeroderma Pigmentosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Peripheral neuropathy in Cockayne's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

DNA repair enzymes in ataxia telangiectasia and Bloom's syndrome fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom's syndrome fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Ultraviolet light-induced sister chromatid exchanges in xeroderma pigmentosum and in Cockayne's syndrome lymphocyte cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Cockayne's Syndrome Fibroblasts Have Increased Sensitivity to Ultraviolet Light But Normal Rates of Unscheduled DNA Synthesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

Unusual sensitivity of ataxia telangiectasia cells to bleomycin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048734

A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents

21 June 2018

1 reference

12 December 2020

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

1 reference

12 December 2020

Cockayne syndrome: a cellular sensitivity to ultraviolet light

1 reference

12 December 2020

Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light

1 reference

12 December 2020

Studies on the ultraviolet light sensitivity of Bloom's syndrome fibroblasts

1 reference

12 December 2020

Dwarfism with Retinal Atrophy and Deafness

https://api.crossref.org/works/10.1136/JMG.18.4.288

2

1 reference

Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome

10 April 2024

https://api.crossref.org/works/10.1136/JMG.18.4.288

7

1 reference

10 April 2024

Identifiers

DOI

10.1136/JMG.18.4.288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7277423 AND SRC:MED&resulttype=core&format=json

14 October 2019

1 reference