Sarah Rickard

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Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100–kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene. The novel exons lack protein coding potential and are expressed from the paternal chromosome only. We(More)
Previous studies have suggested that the two-handled (levered) shovel is advantageous over the conventional spade from a biomechanical point of view. The aim of this experiment was to determine whether less energy was consumed while shovelling a load of sand with this shovel compared to a conventional tool. Accordingly, an experiment was designed in which(More)
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder involving hearing loss, branchial defects, ear pits and renal abnormalities. Oto-facio-cervical (OFC) syndrome is clinically similar to BOR syndrome, with clinical features in addition to those of BOR syndrome. Mutations in the EYA1 gene (localised to 8q13.3) account for nearly 70% of BOR(More)
AIM To assess whether magnetic resonance imaging (MRI) is a useful adjunct to ultrasound (US) when imaging cases of foetal isolated cerebral ventriculomegaly. To assess whether, in such cases, ventricular morphology is a useful indicator for the underlying pathology, as has recently been suggested. MATERIALS AND METHODS A retrospective analysis was(More)
AIM To confirm whether ventricular size or morphology reflects the underlying pathology in foetuses referred with a diagnosis of possible ventriculomegaly (Vm) and central nervous system (CNS) pathology. METHODS Retrospective analysis of 40 in utero magnetic resonance (MR) examinations was undertaken. Ventricular size was measured on axial sections by two(More)
Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss-of-function mutations of the UBE3A(More)
Breast cancer is the most relevant form of cancer among women in Latin America. Many studies have evaluated the hormonal mechanisms involved in mammary carcinogenesis, although new focus is aimed towards factors that can potentially be used individually to reduce risk. Wheat bran seems to show a consistent protective effect in mammary carcinogenesis. Wheat(More)
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