(Q39591964)

13 September 2017

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title

Human DNA repair defects (English)

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13 September 2017

Arlett CF

1

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13 September 2017

1 January 1986

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Journal of Inherited Metabolic Disease

13 September 2017

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13 September 2017

9 Suppl 1

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13 September 2017

69-84

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https://scigraph.springernature.com/pub.10.1007/bf01800860

13 September 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

Use of recombinant DNA techniques in cloning DNA repair genes and in the study of mutagenesis in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

DNA excision-repair processes in human cells can eliminate the cytotoxic and mutagenic consequences of ultraviolet irradiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

Effect of DNA repair on the cytotoxicity and mutagenicity of polycyclic hydrocarbon derivatives in normal and xeroderma pigmentosum human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

Cells from patients with ataxia telangiectasia are abnormally sensitive to the cytotoxic effect of a tumor promoter, phorbol-12-myristate-13-acetate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01800860

Xeroderma pigmentosum patients from the Federal Republic of Germany: decrease in post-UV colony-forming ability in 30 xeroderma pigmentosum fibroblast strains is quantitatively correlated with a decrease in DNA-incising capacity

21 January 2018

1 reference

12 December 2020

Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation

1 reference

12 December 2020

Xeroderma pigmentosum fibroblasts including cells from XP variants are abnormally sensitive to the mutagenic and cytotoxic action of broad spectrum simulated sunlight

1 reference

12 December 2020

Chromosome-breakage syndromes: different genes, different treatments, different cancers

1 reference

12 December 2020

The relationship between chromosome damage and cell killing in UV-irradiated normal and xeroderma pigmentosum cells

1 reference

12 December 2020

Ataxia-telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. Proceedings of a conference. Solvang, California, January 16-20, 1984

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12 December 2020

Ataxia-Telangiectasia: A Multisystem Hereditary Disease with Immunodeficiency, Impaired Organ Maturation, X-Ray Hypersensitivity, and a High Incidence of Neoplasia

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12 December 2020

Studies on the ultraviolet light sensitivity of Bloom's syndrome fibroblasts

1 reference

12 December 2020

Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method

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12 December 2020

Bloom's syndrome. V. Surveillance for cancer in affected families

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12 December 2020

Elevated spontaneous mutation rate in Bloom syndrome fibroblasts

1 reference

12 December 2020

Clastogenic activity from Bloom syndrome fibroblast cultures

1 reference

12 December 2020

Deficiency of DNA ligase activity in Fanconi's anemia

1 reference

12 December 2020

Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus)

1 reference

12 December 2020

Tests appropriate for the prenatal diagnosis of ataxia telangiectasia

1 reference

12 December 2020

Prenatal diagnosis of Cockayne's syndrome

1 reference

12 December 2020

Radiosensitivity of peripheral blood lymphocytes in autoimmune disease

1 reference

12 December 2020

Do radiation-induced thioguanine-resistant mutants of cultured mammalian cells arise by HGPRT gene mutation or X-chromosome rearrangement?

1 reference

12 December 2020

Isolation of UV-resistant revertants from a xeroderma pigmentosum complementation group A cell line

1 reference

12 December 2020

Malignant disease in heterozygous carriers

1 reference

12 December 2020

Relation of D.N.A. repair processes to pathological ageing of the nervous system in xeroderma pigmentosum

1 reference

12 December 2020

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1 reference

12 December 2020

The response of ataxia-telangiectasia homozygous and heterozygous skin fibroblasts to neocarzinostatin.

1 reference

12 December 2020

Induction of sister chromatid exchanges in xeroderma pigmentosum cells after exposure to ultraviolet light

1 reference

12 December 2020

Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

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12 December 2020

Cross-link repair in human cells and its possible defect in Fanconi's anemia cells

1 reference

12 December 2020

Deficiency of gamma-ray excision repair in skin fibroblasts from patients with Fanconi's anemia

1 reference

12 December 2020

Xeroderma pigmentosum: biochemical and genetic characteristics

1 reference

12 December 2020

Unscheduled DNA synthesis induced by streptonigrin in ataxia telangiectasia fibroblasts

1 reference

12 December 2020

Workshop on ataxia-telangiectasia heterozygotes and cancer

1 reference

12 December 2020

Variation in response to mutagens amongst normal and repair-defective human cells

1 reference

12 December 2020

Three complementation groups in Cockayne syndrome

1 reference

12 December 2020

Rapid procedures for prenatal diagnosis of Cockayne syndrome

1 reference

12 December 2020

Age-dependent Changes in Fibroblast Cultures from a Xeroderma Pigmentosum Variant

1 reference

12 December 2020

Cells from an immunodeficient patient (46BR) with a defect in DNA ligation are hypomutable but hypersensitive to the induction of sister chromatid exchanges

1 reference

12 December 2020

Mutagenesis and inducible responses to deoxyribonucleic acid damage in Escherichia coli

1 reference

12 December 2020

Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts

1 reference

12 December 2020

Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.

1 reference

12 December 2020

A ninth complementation group in xeroderma pigmentosum, XP I

1 reference

12 December 2020

DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan

1 reference

12 December 2020

Microinjection of Micrococcus luteus UV-endonuclease restores UV-induced unscheduled DNA synthesis in cells of 9 xeroderma pigmentosum complementation groups

1 reference

12 December 2020

Clinical and cytogenetic diversity in Fanconi's anaemia

1 reference

12 December 2020

DNA repair in Bloom's syndrome fibroblasts after UV irradiation or treatment with mitomycin C

1 reference

12 December 2020

The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation

1 reference

12 December 2020

Molecular cloning of a human DNA repair gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts

1 reference

12 December 2020

Genetic complementation groups in Cockayne syndrome

1 reference

12 December 2020

Identification of two complementation groups in Fanconi anemia

1 reference

12 December 2020

Effects of ionizing radiation on cells from Fanconi's anemia patients

1 reference

12 December 2020

Transfection of cells from a xeroderma pigmentosum patient with normal human DNA confers UV resistance.

1 reference

12 December 2020

Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.

1 reference

12 December 2020

Radiosensitivity in ataxia-telangiectasia: a new explanation

1 reference

12 December 2020

Defective thymine dimer excision by cell-free extracts of xeroderma pigmentosum cells

1 reference

12 December 2020

Identification of ataxia telangiectasia heterozygotes, a cancer prone population

1 reference

12 December 2020

A diffusable clastogenic factor in ataxia telangiectasia

1 reference

12 December 2020

Prenatal diagnosis of ataxia telangiectasia

1 reference

12 December 2020

Bloom's syndrome: evidence for an increased mutation frequency in vivo.

1 reference

12 December 2020

Complement analysis of xeroderma pigmentosum variants

1 reference

12 December 2020

DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum

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12 December 2020

Identifiers

DOI

10.1007/BF01800860

1 reference

13 September 2017

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PubMed ID

3097418