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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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The -2518bp promoter polymorphism at CCL2/MCP1 influences susceptibility to mucosal but not localizedMucosal leishmaniasis (ML) follows localized cutaneous leishmaniasis (CL) caused by Leishmania braziliensis.
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Lifecourse childhood adiposity trajectories associated with adolescent insulin resistanceIn light of the obesity epidemic, we aimed to characterize novel childhood adiposity trajectories from birth to age 14 years and to determine their relation...
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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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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...