(Q33592846)

28 July 2017

title

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

1 reference

28 July 2017

Baraitser M

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28 July 2017

Patton MA

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28 July 2017

Giannelli F

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28 July 2017

Francis AJ

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28 July 2017

Harding B

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28 July 2017

Williams AJ

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28 July 2017

language of work or name

English

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publication date

1 March 1989

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

154-159

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The Neuropathology of Cockayne's Syndrome*†

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

14 July 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=1015575

Necropsy of original case of Lowry's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015575

Prenatal diagnosis of Cockayne's syndrome

14 July 2018

1 reference

12 December 2020

Three complementation groups in Cockayne syndrome

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

Cockayne syndrome with early onset of manifestations

1 reference

12 December 2020

Identifiers

PMC publication ID

1015575

1 reference

28 July 2017

1 reference