Cockayne syndrome: review of 140 cases.

No abstract is available for this paper.

• Publication year

  1992

• Venue

  American journal of medical genetics

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/AJMG.1320420115PMID 1308368
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Distinctive skeletal dysplasia in Cockayne syndrome

  2006cited by this paper
• Cockayne's syndrome

  2004cited by this paper
• MRI in Cockayne syndrome type I

  2004cited by this paper
• Ultrastructure of peripheral nerve in Cockayne's syndrome

  2004cited by this paper
• The neuropathy of Cockayne syndrome

  2004cited by this paper
• DNA repair. Seven genes for three diseases.

  1991cited by this paper
• Seven genes for three diseases

  1991cited by this paper
• The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

  1990cited by this paper
• Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.

  1990cited by this paper
• MRI in the diagnosis of Cockayne's syndrome. One case.

  1990cited by this paper
• Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

  1990cited by this paper
• Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome

  1989cited by this paper
• CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome.

  1989cited by this paper
• Early Onset Leukodystrophy with Distinct Facial Features in 2 Siblings

  1989cited by this paper
• Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

  1989cited by this paper
• Inhibited repair of DNA synthesis in UV-irradiated cultured fibroblasts of a boy with Cockayne's syndrome.

  1988cited by this paper
• Renal lesions in Cockayne's syndrome.

  1988cited by this paper
• Cockayne syndrome: MRI correlates of hypomyelination.

  1988cited by this paper
• 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.

  1988cited by this paper
• Renal lesions in Cockayne syndrome

  1988cited by this paper
• Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility.

  1988cited by this paper
• Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset

  1988cited by this paper
• [A new adapter for fiberoptic bronchoscopy for difficult intubation in a patient with Cockayne syndrome].

  1987cited by this paper
• A clinical and radiological study of two brothers affected by Cockayne syndrome type II.

  1987cited by this paper
• Primary segmental demyelination in the sural nerve in cockayne's syndrome

  1987cited by this paper
• Rare syndromes. I. Cockayne syndrome: a review of the 129 cases so far reported in the literature.

  1987cited by this paper
• Cockayne syndrome (a case report).

  1987cited by this paper
• Cockayne Syndrome with Delayed Recovery of RNA Synthesis after Ultraviolet Irradiation but Normal Ultraviolet Survival

  1987cited by this paper
• Comparative studies of host-cell reactivation, cellular capacity and enhanced reactivation of herpes simplex virus in normal, xeroderma pigmentosum and Cockayne syndrome fibroblasts.

  1986cited by this paper
• Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.

  1986cited by this paper
• Peripheral neuropathy in Cockayne syndrome

  1986cited by this paper
• [Cockayne syndrome: a case with thymic hormone deficiency].

  1986cited by this paper
• [Cockayne syndrome. Study of a peripheral nerve biopsy].

  1986cited by this paper
• DNA repair in human cells: in Cockayne syndrome cells rejoining of DNA strands is impaired.

  1986cited by this paper
• DNA repair in human cells: biochemistry of the hereditary diseases Fanconi's anaemia and Cockayne syndrome. Tenth Fritz-Lipmann lecture.

  1986cited by this paper
• Serum lipid and lipoprotein levels in premature ageing syndromes: total lipodystrophy and Cockayne syndrome.

  1986cited by this paper
• The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum.

  1985cited by this paper
• Prenatal diagnosis of Cockayne's syndrome.

  1985cited by this paper
• Cockayne Syndrome: Clinicopathologic and Tissue Culture Studies of Affected Siblings

  1985cited by this paper
• The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content.

  1984cited by this paper
• Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.

  1984cited by this paper
• Abnormal sensitivity of some Cockayne's syndrome cell strains to UV- and gamma-rays. Association with a reduced ability to repair potentially lethal damage.

  1984cited by this paper
• Deafness in Cockayne's syndrome: Morphological, morphometric, and quantitative study of the auditory pathway

  1984cited by this paper
• Cockayne syndrome--an audiologic and temporal bone analysis.

  1984cited by this paper
• Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome.

  1983cited by this paper
• Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne's syndrome

  1983cited by this paper
• Histopathology of the eye in Cockayne's syndrome.

  1983cited by this paper
• Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid.

  1983cited by this paper
• A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome.

  1982cited by this paper
• Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum.

  1982cited by this paper
• A deficiency in the repair of UV and γ-ray damaged DNA in fibroblasts from Cockayne's syndrome ☆

  1982cited by this paper
• Normal reconstruction of DNA supercoiling and chromatin structure in cockayne syndrome cells during repair of damage from ultraviolet light.

  1982cited by this paper
• Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.

  1982cited by this paper
• Identical male twins and brother with Cockayne syndrome.

  1982cited by this paper
• Cockayne's syndrome

  1982cited by this paper
• Prenatal diagnosis of Cockayne syndrome using assay of colony‐forming ability in ultraviolet light irradiated cells

  1982cited by this paper
• Cockayne syndrome.

  1982cited by this paper
• Early onset of Cockayne syndrome.

  1982cited by this paper
• Three complementation groups in Cockayne syndrome.

  1982cited by this paper
• Excision repair in Cockayne syndrome.

  1982cited by this paper
• Cockayne syndrome with early onset of manifestations.

  1982cited by this paper
• Cockayne's syndrome.

  1982cited by this paper
• Decrease of Thymic Hormone Serum Level in Cockayne Syndrome

  1982cited by this paper
• Normal reconstruction of DNA supercoiling and chromatin structure in cockayne syndrome cells during repair of damage from ultraviolet light.

  1982cited by this paper
• Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

  1982cited by this paper
• Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome

  1981cited by this paper
• A clinical study of a family with Cockayne's syndrome

  1981cited by this paper
• A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.

  1981cited by this paper
• The spectrum of X-ray manifestations in Cockayne's syndrome

  1981cited by this paper
• Cockayne syndrome

  1980cited by this paper
• Cockayne syndrome: report of two siblings and review of literature in Japan.

  1979cited by this paper
• Cockayne syndrome: Unusual neuropathological findings and review of the literature

  1979cited by this paper
• Physical growth: National Center for Health Statistics percentiles.

  1979cited by this paper
• The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.

  1979cited by this paper
• Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome.

  1979cited by this paper
• Normal Pressure Hydrocephalus: Recognition and Relationship to Neurological Abnormalities in Cockayne's Syndrome

  1978cited by this paper
• Cockayne's syndrome and emphysema.

  1978cited by this paper
• Necropsy of original case of Lowry's syndrome.

  1978cited by this paper
• Ultraviolet light-induced sister chromatid exchanges in xeroderma pigmentosum and in Cockayne's syndrome lymphocyte cell lines.

  1978cited by this paper
• DNA repair in Cockayne syndrome.

  1978cited by this paper
• Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis.

  1978cited by this paper
• [Cockayne's syndrome; a radiological entity: a report on two familial cases (author's transl)].

  1978cited by this paper
• Cockayne syndrome: a cellular sensitivity to ultraviolet light.

  1977cited by this paper
• A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

  1977cited by this paper
• [Cockayné's syndrome and its etiopathogenesis].

  1977cited by this paper
• Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One

  1977cited by this paper
• [Cockayne's syndrome (study of 2 cases)].

  1976cited by this paper
• [Cockayne's syndrome].

  1976cited by this paper
• A Defect in Tryptophan Metabolism

  1976cited by this paper
• [Ultrastructural renal lesions in the Cockayne syndrome. A case report (author's transl)].

  1975cited by this paper
• Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair

  1974cited by this paper
• COCKAYNE'S SYNDROME IN TWO SISTERS

  1974cited by this paper
• Corneal dystrophy in Cockayne's syndrome.

  1973cited by this paper
• [Ocular manifestation in Cockayne's syndrome].

  1973cited by this paper
• An atypical case of Cockayne's syndrome

  1973cited by this paper
• [Cockayne's syndrome].

  1973cited by this paper
• 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.

  1972cited by this paper
• Donohue’s Syndrome - Leprechaunism - Cockayne’s Syndrome

  1972cited by this paper
• Ocular and genetic features of Cockayne's syndrome.

  1972cited by this paper
• Ocular and genetic features of Cockayne's syndrome.

  1972cited by this paper

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