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Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility.
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Cyanide in bronchoalveolar lavage is not diagnostic for Pseudomonas aeruginosa in children with cystic fibrosisWe investigated whether cyanide in bronchoalveolar lavage (BAL) fluid could be used as an early diagnostic biomarker of infection in kids with cystic fibrosis
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Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesiaTo describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.
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Population case-control study of cerebral palsy: Neonatal predictors for low-risk term singletonsFor singletons with cerebral palsy (CP) who were born at term, the goals were (1) to determine the proportion not admitted to a Special Care Unit...
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Association between human rhinovirus C and severity of acute asthma in childrenA new and potentially more pathogenic group of human rhinovirus (HRV), group C (HRVC), has recently been discovered.
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Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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Modern and traditional diets for Noongar infantsBreast- & bottle-feeding patterns & the introduction of solid feeds & sugar containing drinks to the dietary intake of a cohort of urban Aboriginal infants
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Lung function testing in preschool-aged children with cystic fibrosis in the clinical settingThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Lentivirus-mediated gene transfer of interleukin 10 to the ovine and human corneaGene transfer to a donor cornea ex vivo can modulate corneal graft failure in experimental animal models. We compared a lentiviral vector (LV) carrying...