(Q34232807)

31 July 2017

1 reference

title

Cockayne syndrome: review of 140 cases (English)

1 reference

31 July 2017

Cockayne syndrome: Review of 140 cases (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

30 November 2023

1 reference

M. A. Nance

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1308368

30 November 2023

S. A. Berry

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1308368

30 November 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1308368

30 November 2023

publication date

1 January 1992

1 reference

full work available at URL

31 July 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002/ajmg.1320420115

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320420115

30 November 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

American Journal of Medical Genetics Part A

30 November 2023

published in

1 reference

31 July 2017

volume

42

1 reference

31 July 2017

issue

1

1 reference

31 July 2017

page(s)

68-84

1 reference

Cockayne's syndrome. A report of three cases

31 July 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's Syndrome Fibroblasts Have Increased Sensitivity to Ultraviolet Light But Normal Rates of Unscheduled DNA Synthesis

30 November 2023

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

The spectrum of X-ray manifestations in Cockayne's syndrome

30 November 2023

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Decrease of thymic hormone serum level in Cockayne syndrome

30 November 2023

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Corneal dystrophy in Cockayne's syndrome

30 November 2023

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome

30 November 2023

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Dwarfism with retinal atrophy and deafness

30 November 2023

16

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Dwarfism with Retinal Atrophy and Deafness

30 November 2023

17

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A clinical and radiological study of two brothers affected by Cockayne syndrome type II

30 November 2023

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Ocular manifestations of Cockayne's syndrome

30 November 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome. Another cause of difficult intubation

30 November 2023

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome: case report

30 November 2023

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome and emphysema

30 November 2023

25

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: MRI correlates of hypomyelination

30 November 2023

26

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Necropsy of original case of Lowry's syndrome

30 November 2023

28

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone

30 November 2023

30

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light Irradiation

30 November 2023

31

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Donohue's syndrome--leprechaunism--Cockayne's syndrome. A report of two patients and discussion of the relation between Donohue's Syndrome and Cockayne's Syndrome

30 November 2023

32

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway

30 November 2023

33

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne's syndrome

30 November 2023

36

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Physical growth: National Center for Health Statistics percentiles

30 November 2023

39

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Early onset leukodystrophy with distinct facial features in 2 siblings.

30 November 2023

40

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

DNA repair in Cockayne syndrome

30 November 2023

43

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Demyelination with calcium deposits and mikrocephaly

30 November 2023

44

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Identical male twins and brother with Cockayne syndrome

30 November 2023

45

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

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

30 November 2023

47

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: Report of two siblings and review of literature in Japan

30 November 2023

48

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome (a case report)

30 November 2023

49

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: an atypical case

30 November 2023

51

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome

30 November 2023

52

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid.

30 November 2023

55

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Serum lipid and lipoprotein levels in premature ageing syndromes: total lipodystrophy and Cockayne syndrome

30 November 2023

59

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Three complementation groups in Cockayne syndrome

30 November 2023

61

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Prenatal diagnosis of Cockayne's syndrome

30 November 2023

63

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Histopathology of the eye in Cockayne's syndrome

30 November 2023

64

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

30 November 2023

Cockayne syndrome.

65

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

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

30 November 2023

67

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Early onset of Cockayne syndrome

30 November 2023

68

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

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

30 November 2023

74

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Excision repair in Cockayne syndrome

30 November 2023

75

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Peripheral neuropathy in Cockayne's syndrome

30 November 2023

77

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

The Neuropathology of Cockayne's Syndrome*†

30 November 2023

78

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome with early onset of manifestations

30 November 2023

79

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Nuclear matrix associated DNA is preferentially repaired in normal human fibroblasts, exposed to a low dose of ultraviolet light but not in Cockayne's syndrome fibroblasts

30 November 2023

80

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A syndrome resembling progeria: A review of two cases

30 November 2023

83

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset

30 November 2023

85

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy

30 November 2023

87

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Primary segmental demyelination in the sural nerve in Cockayne's syndrome

30 November 2023

89

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Renal lesions in Cockayne's syndrome

30 November 2023

90

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum

30 November 2023

91

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome

30 November 2023

92

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Ocular and genetic features of Cockayne's syndrome

30 November 2023

96

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

30 November 2023

Cockayne syndrome

97

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

An atypical case of Cockayne's syndrome

30 November 2023

98

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

30 November 2023

Cockayne syndrome

99

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A clinical study of a family with Cockayne's syndrome

30 November 2023

100

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome

30 November 2023

101

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome. Roentgen findings

30 November 2023

102

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

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

30 November 2023

103

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome. Report of case with necropsy findings

30 November 2023

104

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Ultrastructure of peripheral nerve in Cockayne's syndrome

30 November 2023

105

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Renal lesions in Cockayne's syndrome

30 November 2023

107

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Peripheral neuropathy in Cockayne syndrome

30 November 2023

108

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Dental findings in a child with Cockayne's syndrome

30 November 2023

110

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

30 November 2023

112

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

30 November 2023

115

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Distinctive skeletal dysplasia in Cockayne syndrome.

30 November 2023

119

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings

30 November 2023

120

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome

30 November 2023

121

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: Unusual neuropathological findings and review of the literature

30 November 2023

122

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

CACHECTIC DWARFISM RESEMBLING THE COCKAYNE-NEILL TYPE

30 November 2023

123

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome in two sisters

30 November 2023

124

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.

30 November 2023

125

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne syndrome with delayed recovery of RNA synthesis after ultraviolet irradiation but normal ultraviolet survival

30 November 2023

126

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells

30 November 2023

127

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome

30 November 2023

129

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

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

30 November 2023

134

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

The neuropathy of Cockayne syndrome

30 November 2023

135

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Cockayne's syndrome with chromosomal analysis

30 November 2023

137

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

A Defect in Tryptophan Metabolism

30 November 2023

138

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

Seven genes for three diseases

30 November 2023

139

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320420115

30 November 2023

Identifiers

1 reference

31 July 2017

1 reference