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OBJECTIVES To evaluate the performance of a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow-up and review patient choices for women with high-risk results. METHODS In this study, 21 948 samples were submitted for screening for(More)
OBJECTIVE To describe the quality assurance (QA) processes and their impact on visualization of postmenopausal ovaries in the ultrasound arm of a multicenter screening trial for ovarian cancer. METHODS In the United Kingdom Collaborative Trial of Ovarian Cancer Screening, 50 639 women aged 50-74 years were randomized to the ultrasound arm and underwent(More)
In order to determine whether differences exist in cardiac autonomic tone between different body positions that may be used in unconscious subjects, we examined beat-to-beat heart rate variability (HRV) in volunteers lying supine, and in left lateral and right lateral positions. We studied 24 subjects, aged 20-35 years in each of the three positions on one(More)
Keynote address: " Marfan syndrome and related disorders: from gene to therapy " Prof. 3 AED Pregnancy register, UK and Ireland Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The risk magnitude varies by AED exposure. We provide results from the UK and Ireland Epilepsy and Pregnancy Registers,(More)
address: " Mapping complex traits-The human and canine genetic systems " Donor cell neoplasms (DCN) are a rare entity, and the vast majority reported are either AML or ALL. We report two new cases (males, aged 25 and 43) that had an allogeneic SCT from female related donors in first CR following an initial diagnosis of AML and ALL and respectively. Both(More)
Dysbindin is known to (a) bind ß-dystrobrevin in postsynaptic densities in a number of brain areas, and (b) be a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Reduced levels of dysbindin have been identified presynaptically at hippocampal formation sites lacking ß-dystrobrevin in schizophrenia cases. This suggests a role for(More)
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