Sarah M Nielsen

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We sought to describe the spectrum of potential and confirmed germline genomic events incidentally identified during routine medium-throughput somatic tumor DNA sequencing, and to provide a framework for pre- and post-test consent and counseling for patients and families. Targeted tumor-only next-generation sequencing (NGS) had been used to evaluate for(More)
The meeting was called to order at 2:05 p.m. 1. Approval of the agenda M/S/P (Murray/Stryker) to approve. 2. Approval of the 2/2/16 minutes M/S/P (Watnik/Murray) to approve, amended M/S/P (Karplus/Watnik) to change " require " to " make explicit the requirements of particular assignments and " in the third sentence of the second paragraph of Item 3.A and(More)
Von Hippel-Lindau disease (VHL) is one of the most common inherited neoplasia syndromes and is characterized by highly vascular tumors of the eyes, brain, and spine, as well as benign and malignant tumors and/or cysts of the kidneys, adrenal medullae and sympathetic paraganglia, endolymphatic sac, epididymis, and broad ligament. Since the discovery of the(More)
Von Hippel-Lindau disease is a genetic condition due to mutation of the Von Hippel-Lindau gene, which leads to an increased risk in the development of hemangioblastomas of the brain and spinal cord. The pathophysiology of disease and its clinical manifestations, as they pertain to the general neurologist, are discussed. Therapeutic management of central(More)
Ovarian cancer is a disease of older women. However, the molecular mechanisms of ovarian aging and their contribution to the pathogenesis of ovarian cancer are currently unclear. mTOR signalling is a major regulator of aging as suppression of this pathway extends lifespan in model organisms. Overactive mTOR signalling is present in up to 80% of ovarian(More)
  • Helena M Coello, Jorge A Casanas, Tonette S Rocco, Michael D, Silvana Ianinska, Ursula Wright +59 others
  • 2003
P Pr ro oc ce ee ed di in ng gs s o of f S Su up pp po or rt ti in ng g I In nt te er rd di is sc ci ip pl li in na ar ry y I In nq qu ui ir ry y: : T Th he e S Se ec co on nd d A An nn nu ua al l C Co ol ll le eg ge e o of f E Ed du uc ca at ti io on n R Re es se ea ar rc ch h C Co on nf fe er re en nc ce e (Proceedings Editor), and to the rest of the(More)
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