(Q48544061)

12 February 2018

title

Cockayne syndrome in three sisters with varying clinical presentation (English)

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12 February 2018

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Eleftherios P. Diamandis

4

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12 February 2018

author name string

Adel A H Mahmoud

1

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12 February 2018

George M Yousef

2

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Ibrahim Al-Hifzi

3

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publication date

1 July 2002

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12 February 2018

American Journal of Medical Genetics Part A

published in

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volume

111

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12 February 2018

issue

1

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12 February 2018

page(s)

81-85

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12 February 2018

Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Dwarfism with Retinal Atrophy and Deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Cockayne syndrome--a primary defect in DNA repair, transcription, both or neither?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Chronological changes of auditory brainstem responses in Cockayne's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Cockayne syndrome: Review of 140 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Cockayne syndrome: review of 25 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Cockayne syndrome and xeroderma pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10492

21 January 2018

Identifiers

DOI

10.1002/AJMG.10492

1 reference

12 February 2018

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12 February 2018