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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

Science (American Association for the Advancement of Science), 1995-06, Vol.268 (5218), p.1749-1753

1995

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Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum

British journal of radiology, 2006-06, Vol.79 (942), p.510-517

2006

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Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts

British journal of radiology, 2008, Vol.81 (961), p.51-58

2008

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Short Tandem Repeat Profiling Provides an International Reference Standard for Human Cell Lines

Proceedings of the National Academy of Sciences - PNAS, 2001-07, Vol.98 (14), p.8012-8017

2001

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Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

American journal of human genetics, 1994-02, Vol.54 (2), p.191-200

1994

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A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy

American journal of human genetics, 1993-10, Vol.53 (4), p.817-821

1993

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V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder

The Journal of biological chemistry, 1993-09, Vol.268 (27), p.20105-20109

1993

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Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

The Lancet (British edition), 1992-06, Vol.339 (8808), p.1508-1509

1992

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The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect

Cancer research (Chicago, Ill.), 2000-01, Vol.60 (2), p.431-438

2000

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A DNA double-strand break defective fibroblast cell line (180BR) derived from a radiosensitive patient represents a new mutant phenotype

Cancer research (Chicago, Ill.), 1997-10, Vol.57 (20), p.4600-4607

1997

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Defective repair of DNA double-strand breaks and chromosome damage in fibroblasts from a radiosensitive leukemia patient

Cancer research (Chicago, Ill.), 1995-03, Vol.55 (6), p.1232-1234

1995

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Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Proceedings of the National Academy of Sciences - PNAS, 1997-08, Vol.94 (16), p.8658-8663

1997

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Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and cockayne syndrome

American journal of human genetics, 1995, Vol.56 (1), p.167-174

1995

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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

Human molecular genetics, 2001-10, Vol.10 (22), p.2539-2547

2001

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Possible association between mutant frequency in peripheral lymphocytes and domestic radon concentrations

The Lancet (British edition), 1991-05, Vol.337 (8751), p.1187-1189

1991

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Hypersensitivity of human lymphocytes to UV-B and solar irradiation

Cancer research (Chicago, Ill.), 1993-02, Vol.53 (3), p.609-614

1993

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Radiosensitivity in Nijmegen Breakage Syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects

Cancer research (Chicago, Ill.), 2000-09, Vol.60 (17), p.4881-4888

2000

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Cells from an Immunodeficient Patient (46BR) with a Defect in DNA Ligation are Hypomutable but Hypersensitive to the Induction of Sister Chromatid Exchanges

Proceedings of the National Academy of Sciences - PNAS, 1985-04, Vol.82 (7), p.2044-2048

1985

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Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

Cancer research (Chicago, Ill.), 1988-11, Vol.48 (21), p.6090-6096

1988

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An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

British journal of radiology, 1990-08, Vol.63 (752), p.624-628

1990

Volltextzugriff (PDF)

Induction of cyclobutane pyrimidine dimers, pyrimidine(6-4)pyrimidone photoproducts, and Dewar valence isomers by natural sunlight in normal human mononuclear cells

Cancer research (Chicago, Ill.), 1995-06, Vol.55 (11), p.2245-2248

1995

Volltextzugriff (PDF)

Photocarcinogenesis and Inhibition of Intercellular Adhesion Molecule 1 Expression in Cells of DNA-Repair-Defective Individuals

Proceedings of the National Academy of Sciences - PNAS, 1997-06, Vol.94 (13), p.6837-6841

1997

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Xeroderma Pigmentosum Cells with Normal Levels of Excision Repair have a Defect in DNA Synthesis after UV-Irradiation

Proceedings of the National Academy of Sciences - PNAS, 1975-01, Vol.72 (1), p.219-223

1975

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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

Nature (London), 1975-12, Vol.258 (5534), p.427-429

1975

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Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome

Cancer research (Chicago, Ill.), 1988-11, Vol.48 (22), p.6343-6347

1988

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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum

Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts

Short Tandem Repeat Profiling Provides an International Reference Standard for Human Cell Lines

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy

V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder

Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect

A DNA double-strand break defective fibroblast cell line (180BR) derived from a radiosensitive patient represents a new mutant phenotype

Defective repair of DNA double-strand breaks and chromosome damage in fibroblasts from a radiosensitive leukemia patient

Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and cockayne syndrome

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

Possible association between mutant frequency in peripheral lymphocytes and domestic radon concentrations

Hypersensitivity of human lymphocytes to UV-B and solar irradiation

Radiosensitivity in Nijmegen Breakage Syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects

Cells from an Immunodeficient Patient (46BR) with a Defect in DNA Ligation are Hypomutable but Hypersensitive to the Induction of Sister Chromatid Exchanges

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

Induction of cyclobutane pyrimidine dimers, pyrimidine(6-4)pyrimidone photoproducts, and Dewar valence isomers by natural sunlight in normal human mononuclear cells

Photocarcinogenesis and Inhibition of Intercellular Adhesion Molecule 1 Expression in Cells of DNA-Repair-Defective Individuals

Xeroderma Pigmentosum Cells with Normal Levels of Excision Repair have a Defect in DNA Synthesis after UV-Irradiation

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome

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