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Congenital chromosomal disease

Known as: Abnormalities, Chromosomal, Chromosome Abnormality Disorder, Disorder, Chromosomal 
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome… 
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (41)

15q24 Microdeletion16p11.2 Deletion Syndrome22q13.3 Deletion Syndrome47, XYY syndrome
Autosome AbnormalitiesChromosome AberrationsCytogeneticsIn Blood

Broader (1)

Hereditary Diseases

Papers overview

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Highly Cited
1991
Highly Cited
1991
Detection of numerical chromosome aberrations using in situ hybridization in paraffin sections of routinely processed bladder cancers.
Highly Cited
1987
Highly Cited
1987
Cytogenetic studies on 519 consecutive de novo acute nonlymphocytic leukemias.
Highly Cited
1984
Highly Cited
1984
Nonrandom chromosomal changes in transitional cell carcinoma of the bladder.
Nine cases of transitional cell carcinoma (eight from the urinary bladder and one from the ureter; six noninvasive and three… 
Highly Cited
1983
Highly Cited
1983
Onco gen: Human oncogene locations and chromosome aberrations
Review
1980
Review
1980
The incidence of unstable chromosome aberrations in peripheral blood lymphocytes from unirradiated and occupationally exposed people.
Highly Cited
1978
Highly Cited
1978
Hyperthermic radiosensitization of synchronous Chinese hamster cells: relationship between lethality and chromosomal aberrations.
Synchronous Chinese hamster cells in vitro were obtained by mitotic selection. The cells were heated at 45.5°C for 4 min in… 
Highly Cited
1976
Highly Cited
1976
Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… 
Highly Cited
1973
Highly Cited
1973
Chromosome studies in 5,049 consecutive newborn children
Data from a chromosome examination of 5,049 consecutive newborn children are presented. Major chromosome abnormalities were found… 
Review
1965
Review
1965
THE INDUCTION OF THYMINE DIMERS IN ULTRAVIOLET-IRRADIATED MAMMALIAN CELLS.
It is well established that both gene mutations and chromosome aberrations can be induced by ultraviolet (UV) light (see review… 
Highly Cited
1963
Highly Cited
1963
Properties of chromosomal nucleohistone.
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