Learn More
Myotonic dystrophy, caused by DM1 CTG/CAG repeat expansions, shows varying instability levels between tissues and across ages within patients. We determined DNA replication profiles at the DM1 locus in patient fibroblasts and tissues from DM1 transgenic mice of various ages showing different instability. In patient cells, the repeat is flanked by two(More)
OBJECTIVE To assess women's knowledge of and views on the evaluation and reporting of ultrasound soft markers. METHODS A prospective survey of 263 women undergoing 18 to 20 week anatomy ultrasound examination at Mount Sinai Hospital, a level 3 perinatal referral centre for a multi-ethnic population of approximately 2.5 million. RESULTS Prior to reading(More)
The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996]. The condition is known as Spear syndrome and(More)
Canadian medical genetics professionals and international guest advisors gathered in Toronto on October 2, 2014, at the invitation of the University of Toronto’s McLaughlin Centre. The Centre’s mandate is to advance genomic medicine through education and research, and the purpose of the symposium was to consider the challenges in applying new genome-wide(More)
OBJECTIVE The purpose of this study was to determine the ability of uterine artery Doppler and placental ultrasound to identify adverse clinical outcomes attributable to severe placental dysfunction in women with second-trimester unexplained elevated maternal serum screening of alpha-fetoprotein and human chorionic gonadotropin. STUDY DESIGN Fifty(More)
  • 1