Joyce Fox

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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative(More)
Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompasses PCSK1, representing a novel genetic mechanism(More)
Purpose of study Vitamin D deficiency (VDD) is associated with elevated risks of cardiovascular disease, malignancies and impaired survival of the general population. In HIV infection VDD is related to anaemia, HIV disease progression and death, and in hepatitis C (HCV) infection impaired treatment responses to interferon. Severe VDD is common in both HIV(More)
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