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A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Data up to Jan 2025

Published1981
Citations350
References24

Total Citations Per Year

Abstract

References (24)

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

1974 • 934 citations

LYMPHOPENIA AND CHANGE IN DISTRIBUTION OF HUMAN B AND T LYMPHOCYTES IN PERIPHERAL BLOOD INDUCED BY IRRADIATION FOR MAMMARY CARCINOMA

1972 • 462 citations

The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man

1972 • 461 citations

Malignant neoplasms in the families of patients with ataxia-telangiectasia.

1976 • 285 citations

Somatic rearrangement of chromosome 14 in human lymphocytes.

1975 • 274 citations

ATAXIA-TELANGIECTASIA

1972 • 235 citations

High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia

1980 • 173 citations

Investigation and Standardization of the Conditions for Micro‐Lymphocyte Cultures

1973 • 107 citations

Non-random occurrence of 7–14 translocations in human lymphocyte cultures

1975 • 103 citations

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

1977 • 101 citations

Cytogenetic investigations in families with ataxia-telangiectasia

1975 • 99 citations

Identification of two Robertsonian translocations with a Giemsa banding technique

1972 • 81 citations

Progress in Medical Genetics

1972 • 79 citations

A defect of cellular immunity in xeroderma pigmentosum

1974 • 58 citations

[Letters to nature]

1975 • 52 citations

Karyotype instability with multiple 7/14 and 7/7 rearrangements

1979 • 40 citations

[Letters to nature]

1975 • 39 citations

A turbidimetric immuno assay (TIA) with automated individual blank compensation

1977 • 38 citations

Immune responses in four patients with Bloom syndrome

1979 • 32 citations

Chromosome 7 in ataxia-telangiectasia

1980 • 29 citations

INDICATION OF PRIMARY IMMUNE DEFICIENCY IN FANCONI'S ANEMIA

1977 • 26 citations

“Reverse” differential staining of sister chromatids

1977 • 21 citations

Bloom's syndrome in two Dutch families

1977 • 20 citations

Class-specific antibody titres (ELISA) against the primary immunogen Helix pomatia haemocyanin (HPH) in man.

1978 • 20 citations

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A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME (1981) – Acta Paediatrica | Metascience Observatory Explorer