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Nijmegen Breakage Syndrome

Known as: Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies, Ataxia Telangiectasia Variant V1, Seemanova Syndrome II 
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and… 
National Institutes of Health

Related topics

Related topics

39 relations
Anus, ImperforateAutoimmune hemolytic anemiaAutosomal recessive inheritanceBronchiectasis

Broader (1)

Ataxia Telangiectasia

Narrower (1)

Microcephaly microcornea syndrome Seemanova type

Papers overview

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Highly Cited
1990
Highly Cited
1990
Comparison between calculated and experimental values of the lowest excited electronic state of small CdSe crystallites.
On considere deux types de forme cristalline et une constante dielectrique variant dans l'espace. Les resultats sont en bon… 
1986
1986
Repair of ionizing radiation DNA base damage in ataxia-telangiectasia cells.
Micrococcus luteus endonuclease sensitive sites were measured by alkaline elution in normal human and ataxia-telangiectasia (AT… 
1984
1984
Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7.
Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic… 
Review
1984
Review
1984
Endocarditis caused by Streptococcus morbillorum.
Although patients with nutritionally variant streptococcal endocarditis have been reported in recent years, the specific clinical… 
1983
1983
Clinical management of the bonded Herbst appliance.
Over the last few years, we have been developing a system of clinical management of the bonded Herbst appliance (Fig. 1). This… 
Review
1982
Review
1982
The response of a variety of human fibroblast cell strains to the lethal effects of alkylating agents.
The sensitivities of fifteen human fibroblast cell strains to the lethal effects of alkylation damage produced by N-methyl-N… 
1981
1981
Agar gel electrophoretic determination of glycosylated hemoglobin: effect of variant hemoglobins, hyperlipidemia, and temperature.
We investigated the effect of temperature, variant hemoglobins, and hyperlipidemia on determination of glycosylated hemoglobin by… 
Review
1980
Review
1980
Drug-resistant lymphocytes in man as indicators of somatic cell mutation.
Direct in vivo tests of somatic mutation in man may provide realism in assessing the genetic risks of potential environmental… 
1970
1970
Die Erben Bismarcks : Parteien und Verbände in der Spätphase des Wilhelminischen Deutschlands : Sammlungspolitik 1897-1918
1963
1963
HARRIS AND WHITTAKER'S PSEUDOCHOLINESTERASE VARIANT WITH INCREASED RESISTANCE TO FLUORIDE. A STUDY OF FOUR FAMILIES AND THE IDENTIFICATION OF THE HOMOZGOTE.