Frances Lucy Raymond

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Originally prenatal diagnosis was confined to the diagnosis of metabolic disorders and depended on assaying enzyme levels in amniotic fluid. With the development of recombinant DNA technology, molecular diagnosis became possible for some genetic conditions late in the 1970s. Here we briefly review the history of molecular prenatal diagnostic testing, using(More)
This report is of a round-table discussion held in Cardiff in September 2009 for Cesagen, a research centre within the Genomics Network of the UK’s Economic and Social Research Council. The meeting was arranged to explore ideas as to the likely future course of human genomics. The achievements of genomics research were reviewed, and the likely constraints(More)
The authors report a case of an isolated schwannoma of left hypoglossal nerve in a 9-year-old girl. To the authors' knowledge, this is the first case report of hypoglossal nerve schwannoma in the pediatric population in the absence of neurofibromatosis Type 2. The patient presented with a 2-month history of morning nausea and vomiting with occasional(More)
Just as the rumours were circulating that the human genome was done and that there was little else to Wnd the identiWcation of copy number variations (CNVs), a new and fascinating aspect to variation between individuals in the genome heralded. The last 3 years has seen an explosion of data about CNVs from the presence of these in a few rare diseases to the(More)
N eurofibromatosis 2 (NF2) is an autosomal dominant disease associated with mutations in the gene NF2. In clinical practice, the diagnosis is made if a patient satisfies the 1987 National Institutes of Health diagnostic criteria, which are either the presence of bilateral vestibular schwannomas or a first degree relative with NF2 and a unilateral vestibular(More)
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