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One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.
This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.
Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.
We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.
Research
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasisA conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three...
Research
Safety surveillance of influenza vaccine in pregnant womenVaccination is the most effective strategy for preventing influenza infection in pregnancy.
Research
In utero exposure to arsenic alters lung development and genes related to immune and mucociliary function in miceIn utero exposure to arsenic via drinking water increases the risk of lower respiratory tract infections during infancy and mortality from bronchiectasis in...
Research
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusCentral corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma.