Maria Oliver-Bonet

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Due to its role during meiosis, variations in the PRDM9 nucleotide sequence have been associated with different pathologies of meiotic origin: infertility (Irie et al. 2009), de novo genomic disorders (Berg et al. 2010; Borel et al. 2012), and childhood leukemogenesis (Hussin et al. 2013) (OMIM accession number: 609760). So far, alleles of the PRDM9 zinc(More)
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the(More)
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