(Q41771953)

9 October 2017

Xeroderma pigmentosum--Cockayne syndrome complex: a further case (English)

1 reference

xeroderma pigmentosum-Cockayne syndrome complex

9 October 2017

0 references

author name string

Hamel BC

1

1 reference

9 October 2017

Raams A

2

1 reference

9 October 2017

Schuitema-Dijkstra AR

3

1 reference

9 October 2017

Simons P

4

1 reference

9 October 2017

van der Burgt I

5

1 reference

9 October 2017

Jaspers NG

6

1 reference

9 October 2017

Kleijer WJ

7

1 reference

9 October 2017

language of work or name

English

0 references

publication date

1 July 1996

1 reference

Journal of Medical Genetics

9 October 2017

1 reference

9 October 2017

33

1 reference

9 October 2017

7

1 reference

9 October 2017

607-610

1 reference

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair

9 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Xeroderma pigmentosum complementation group G associated with Cockayne 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=1050673

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne 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=1050673

Nucleotide excision repair syndromes: molecular basis and clinical symptoms

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new 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=1050673

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus 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=1050673

Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

6 June 2018

COFS syndrome revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050673

Early onset of Cockayne syndrome

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8818951

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8818951

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.7.607

1 reference

9 October 2017

1 reference

9 October 2017

PubMed publication ID

8818951

1 reference