Elizabeth Mary Fitzpatrick

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Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of(More)
This study examined: (1) the prevalence of hearing-aid use in a clinical population of adults with unilateral cochlear implants, (2) the relationship between hearing-aid use, severity of hearing loss, duration of deafness and duration of cochlear implant use, and (3) the benefits of bimodal hearing from the users' perspective. Using a retrospective design,(More)
Quantitative polymerase chain reaction (qPCR) for the identiWcation and quantiWcation of microbes has become a common tool for the study of harmful algal blooms (HABs). We developed a qPCR method for the dia-tom genus Pseudo-nitzschia. Several species of this genus form toxic blooms through the production of the neurotoxin domoic acid (DA). Outbreaks of(More)
OBJECTIVE Previous studies have suggested that individuals with long-term prelinguistic deafness who receive cochlear implants show little improvement in speech recognition skills. The purpose of this study was to examine the auditory functioning of individuals with prelinguistic deafness who received cochlear implants after the age of 12. STUDY DESIGN(More)
Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an Australian family with three males displaying clinical features of early-onset parkinsonism and intellectual disability identified a ∼45 kb deletion resulting in the complete loss of RAB39B. We(More)
A recent trend has been the implantation of bilateral cochlear implants (CIs) for children with severe to profound hearing loss. A review of available research on bilateral CIs was conducted to determine the support for this trend. A replicable review was undertaken to evaluate published research studies that examined the effectiveness of bilateral(More)
1,2. The common diatom genus Pseudo-nitzschia consists of several species known to produce the neurotoxin domoic acid 3. Recent studies suggest that algal blooms dominated by Pseudo-nitzschia are increasing in frequency and duration owing to changes in coastal nutrient regimes 1,4,5. However, few studies have examined the persistence or long-term(More)
OBJECTIVES The purpose of this study was to document the performance of a group of children with moderately severe to severe hearing loss who use hearing aids on a range of speech recognition, speech-language, and literacy measures and to compare these results to children with severe to profound hearing loss, who have learned language through cochlear(More)
Pre-eclampsia/eclampsia (PE/E) is a common and serious disorder of human pregnancy that is associated with substantial maternal and perinatal morbidity and mortality. The suspected aetiology of PE/E is complex, with susceptibility being attributable to multiple environmental factors and a large genetic component. By assuming that the underlying liability(More)
This study explored: (1) the benefits of an FM system in real-world environments from the perspective of adults with coch-lear implants, and (2) the factors and barriers to using an FM system with a cochlear implant. Using a qualitative research design, 14 adults with unilateral cochlear implants recorded their experiences during a two-month trial period(More)