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Cockayne Syndrome

Known as: Syndrome, Progeria-Like, cockaynes syndrome, Cockayne's syndrome 
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is… 
National Institutes of Health

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Cerebrooculofacioskeletal Syndrome 1Cockayne Syndrome, Type ICockayne Syndrome, Type IICockayne Syndrome, Type III
DNA Excision Repair Protein ERCC-2DwarfismERCC2 geneERCC2 wt Allele

Papers overview

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2012
2012
Cheek by Jowl: A History of Neighbours
Almost everyone has a neighbour. Neighbours can enrich or ruin our lives. They fascinate and worry us in equal measure. Soap… 
1986
1986
Transient expression of a plasmid gene, a tool to study DNA repair in human cells: defect of DNA repair in Cockayne syndrome; one thymine cyclobutane dimer is sufficient to block transcription.
Transfected recombinant DNA with regulatory elements such as eukaryotic promoter and termination sites is transiently expressed… 
1986
1986
Peripheral neuropathy in Cockayne syndrome
Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy… 
1983
1983
U.v. induces long-lived DNA breaks in Cockayne's syndrome and cells from an immunodeficient individual (46BR): defects and disturbance in post incision steps of excision repair.
In normal cells exposed to low u.v. doses the several enzymic steps of the excision repair process are closely coupled with the… 
1979
1979
The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.
Three children with renal disease, hypertension, and the Cockayne syndrome were evaluated. All patients had severe hypertension… 
1978
1978
Cockayne's syndrome and emphysema.
A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe… 
1972
1972
Cockayne's syndrome. Roentgen findings.
Cockayne’s syndrome is a specific roentgenologic entity as well as a specific clinical entity, the radiologist being able to… 
1972
1972
Cockayne's syndrome. A report of three cases.
Abstract Three cases of Cockayne's syndrome are analyzed to describe the characteristic radiographic findings. There is a… 
1969
1969
Cockayne's syndrome
SummaryThe clinical and necropsy findings have been described in an 11 year old girl with classical Cockayne's syndrome which… 
1963
1963
Effect of anabolic hormones and ferric dextran upon the progeria-like syndrome produced by dihydrotachysterol.