Browsing by Subject "Translocation, Genetic"
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Article
Balanced translocations for the analysis of imprinted regions of the mouse genome.
(2001)Experimental studies that investigate the functional and mechanistic properties of an imprinted locus require material in which the two parental chromosome homologs can be easily distinguished. The use of animals with ...
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Article
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology
(1997)The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, ...
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Article
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
(1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...