Review: Diseases with DNA Damage-Processing Defects

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1968 • 1,739 citations

A Manyfold Increase in Sister Chromatid Exchanges in Bloom's Syndrome Lymphocytes

1974 • 934 citations

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

1983 • 918 citations

Xeroderma Pigmentosum

1974 • 755 citations

Mendelian Inheritance in Man

1987 • 599 citations

Failure of RNA synthesis to recover after UV irradiation; An early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum

1982 • 418 citations

The incidence and gene frequency of ataxia-telangiectasia in the United States.

1986 • 376 citations

“TENNIS THUMB”

1951 • 345 citations

Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects.

1967 • 308 citations

Molecular cloning of a human DNA repair gene

1984 • 307 citations

Cellular responses to DNA damage

1983 • 301 citations

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

1977 • 294 citations

Chromosome mutation and neoplasia

1983 • 290 citations

Werner's syndrome: A review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations

1982 • 254 citations

Spectrum of anomalies in Fanconi anaemia.

1982 • 195 citations

Three complementation groups in Cockayne syndrome

1982 • 183 citations

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

1975 • 180 citations

DNA ligase I deficiency in Bloom's syndrome

1987 • 169 citations

Identification of two complementation groups in Fanconi anemia

1985 • 159 citations

Altered DNA ligase I activity in Bloom's syndrome cells

1987 • 152 citations

Unusual sensitivity of ataxia telangiectasia cells to bleomycin.

1979 • 148 citations

The syndrome of congenital telangiectaticerythema and stunted growth

1966 • 144 citations

Clastogenic activity from Bloom syndrome fibroblast cultures.

1981 • 114 citations

Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome

1979 • 113 citations

Complementation of the defects of DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells.

1982 • 112 citations

Genetic complementation groups in Cockayne syndrome

1981 • 103 citations

Fanconi Anemia: Prenatal Diagnosis in 30 Fetuses at Risk

1985 • 94 citations

Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells

1985 • 83 citations

The response of ataxia telangiectasia cells to bleomycin

1979 • 78 citations

Fanconi anaemia cells are not uniformly deficient in unhooking of DNA interstrand crosslinks, induced by mitomycin C or 8-methoxypsoralen plus UVA

1984 • 62 citations

Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia

1986 • 61 citations

Effect of cocultivation on sister chromatid exchange frequencies in Bloom's syndrome and normal fibroblast cells

1978 • 56 citations

Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay

1979 • 46 citations

Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene.

1985 • 45 citations

DNA-mediated transfer of a human DNA repair gene that controls sister chromatid exchange.

1985 • 45 citations

Altered temporal expression of DNA repair in hypermutable Bloom's syndrome cells.

1984 • 44 citations

Cellular hypersensitivity to neocarzinostatin in ataxia-telangiectasia skin fibroblasts.

1982 • 41 citations

Transient correction of excision repair defects in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extracts

1986 • 38 citations

Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA.

1984 • 32 citations

Complementation analysis of ataxia-telangiectasia.

1985 • 32 citations

Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid

1987 • 24 citations

Murine DNA repair gene located on chromosome 4

1981 • 22 citations

Repair-deficient xeroderma pigmentosum cells made UV light resistant by fusion with X-ray-inactivated Chinese hamster cells.

1986 • 17 citations

Photosensitivity in Children

1983 • 6 citations

Further studies on compartmentalisation of DNA-topoisomerase I in Fanconi anemia tissue

1984 • 5 citations