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Article
Open AccessAdditional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicul...
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Article
Open AccessClinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai...
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Article
A Combination of Micronucleus Assay and Fluorescence In Situ Hybridization Analysis to Evaluate the Genotoxicity of Formaldehyde
A genotoxic effect of formaldehyde (FA), particularly micronucleus (MN) induction, has been shown in several previous studies. The aim of the present study was to assess the frequency of micronuclei and to ide...