Angelique S A Goercharn-Ramlal

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PURPOSE To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1). DESIGN Case series. PARTICIPANTS Seventeen persons with STGD1 carrying ABCA4 variants and 1 control participant. METHODS Haplotype analysis of 4 homozygotes and 11 heterozygotes for c.5461-10T→C and(More)
Meiosis is a critical phase in the life cycle of sexually reproducing organisms. Chromosome numbers are halved during meiosis, which requires meiosis-specific modification of chromosome behaviour. Furthermore, suppression of transposons is particularly important during meiosis to allow the transmission of undamaged genomic information between generations.(More)
Human germ cells originate in an extragonadal location and have to migrate to colonize the gonadal primordia at around seven weeks of gestation (W7, or five weeks post conception). Many germ cells are lost along the way and should enter apoptosis, but some escape and can give rise to extragonadal germ cell tumors. Due to the common somatic origin of gonads(More)
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