Search Results - "Stockley, T L"
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The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis
Published in Prenatal diagnosis (01-08-2010)“…Objective The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies…”
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Data resources for the identification and interpretation of actionable mutations by clinicians
Published in Annals of oncology (01-05-2017)“…Following initial characterization of the reference human genome, initiatives have evolved worldwide to identify genomic aberrations in cancer with the aim of…”
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A phase I study of binimetinib (MEK 162), a MEK inhibitor, plus carboplatin and pemetrexed chemotherapy in non-squamous non-small cell lung cancer
Published in Lung cancer (Amsterdam, Netherlands) (01-07-2021)“…•Recommended phase II dose is binimetinib 30 mg BID with carboplatin/pemetrexed in non-squamous NSCLC.•Manageable toxicities observed with the combination of…”
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The Somatic Curation and Interpretation Across Laboratories (SOCIAL) project-current state of solid-tumour variant interpretation for molecular pathology in Canada
Published in Current oncology (Toronto) (01-12-2019)“…Practices in somatic variant interpretation and classification vary between Canadian clinical molecular diagnostic laboratories, and understanding of current…”
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Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study
Published in Current oncology (Toronto) (01-12-2019)“…A pilot inter-laboratory proficiency scheme for 5 Ontario clinical laboratories testing tumour samples for the Ontario-wide Cancer Targeted Nucleic Acid…”
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Crizotinib inhibition of ROS1- positive tumours in advanced non-small-cell lung cancer: a Canadian perspective
Published in Current oncology (Toronto) (01-08-2019)“…The ros1 kinase is an oncogenic driver in non-small-cell lung cancer (nsclc). Fusion events involving the gene are found in 1%-2% of nsclc patients and lead to…”
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OCTANE (Ontario-wide Cancer Targeted Nucleic Acid Evaluation): a platform for intraprovincial, national, and international clinical data-sharing
Published in Current oncology (Toronto) (01-10-2019)“…Cancer is a genetic disease resulting from germline or somatic genetic aberrations. Rapid progress in the field of genomics in recent years is allowing for…”
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The in vivo delivery of heterologous proteins by microencapsulated recombinant cells
Published in Trends in Biotechnology (01-02-1999)“…The microencapsulation of recombinant cells is a novel and potentially cost-effective method of heterologous protein delivery. A ‘universal’ cell line,…”
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Book Review Journal Article -
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
Published in Human molecular genetics (15-05-2002)“…Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated…”
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Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
Published in American journal of medical genetics. Part A (15-01-2004)“…Canavan disease (CD) is an autosomal recessive progressive neurodegenerative disorder prevalent in the Ashkenazi Jewish (AJ) population. The carrier rate for…”
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Delivery of recombinant product from subcutaneous implants of encapsulated recombinant cells in canines
Published in The Journal of laboratory and clinical medicine (01-06-2000)“…Delivering recombinant therapeutic proteins from a universal microencapsulated cell line is an alternate method for gene therapy. It has proved effective in…”
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Prospective Next-Generation Sequencing Molecular Profiling of Myeloid Malignancies: Assessment of Information Benefit and Impact on Patient Care
Published in BLOOD (03-12-2015)“…Introduction. Recent genome profiling studies have increased our understanding of the mutation landscapes of myeloid malignancies. Molecular testing of AMLs…”
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Journal Article Conference Proceeding -
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Auditory Responses in Cochlear Implant Users With and Without GJB2 Deafness
Published in The Laryngoscope (01-02-2006)“…Objective/Hypothesis: It is reasonable to suppose that the pattern of sensorineural damage along the length of the cochlea depends on the etiology of a hearing…”
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Non-Autologous Transplantation with Immuno-isolation in Large Animals-A Review
Published in Annals of the New York Academy of Sciences (31-12-1997)“…Transplantation has become a successful method for the management of functional failure of a variety of tissues or organs. However, the majority of clinical…”
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Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program
Published in International journal of pediatric otorhinolaryngology (01-03-2006)“…To determine the relationship between ethnicity and mutations in the GJB2 and GJB6 genes in multi-cultural patients enrolled in a Canadian paediatric Cochlear…”
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