(Q41653440)

6 October 2017

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation (English)

1 reference

6 October 2017

Lehmann AR

1

1 reference

6 October 2017

Thompson AF

2

1 reference

6 October 2017

Harcourt SA

3

1 reference

6 October 2017

Stefanini M

4

1 reference

6 October 2017

Norris PG

5

1 reference

6 October 2017

language of work or name

English

0 references

publication date

1 August 1993

1 reference

Journal of Medical Genetics

6 October 2017

1 reference

6 October 2017

30

1 reference

6 October 2017

8

1 reference

6 October 2017

679-682

1 reference

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

Preferential DNA repair of an active gene in human cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

Lack of complementation between xeroderma pigmentosum complementation groups D and H.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

MRI in Cockayne syndrome type I.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

Abnormal erythemal response and elevated T lymphocyte HRPT mutant frequency in Cockayne's syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

Cockayne syndrome: Review of 140 cases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016498

Genetic complementation groups in Cockayne syndrome

6 June 2018

1 reference

12 December 2020

Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum

1 reference

12 December 2020

Three complementation groups in Cockayne syndrome

1 reference

12 December 2020

Excision repair in Cockayne syndrome

1 reference

12 December 2020

Prenatal diagnosis of Cockayne's syndrome

1 reference

12 December 2020

Xeroderma pigmentosum complementation group H falls into complementation group D

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.8.679

1 reference

6 October 2017

1 reference

6 October 2017

PubMed publication ID

7692050

1 reference