Clinical Genetics
DataGenno: building a new tool to bridge molecular and clinical genetics
... Abstract: Clinical genetics is one of the most challenging fields in medicine, with thousands of children born every year with congenital defects that have no satisfactory ...births. Clinical and ...
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RELATED ASPECTS OF CLINICAL GENETICS AND RETT SYNDROME EVOLUTION
... other clinical characteristics, are still important and fundamental elements for ...the clinical diagnosis of disorder-related Rett syndrome or MECP2; To exclude mutation in MECP2 in families with cases of ...
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Genetics, insurance and professional practice: Survey of the Australasian clinical genetics workforce
... The model of a self-regulated life insurance industry does not compel a rigorous standard of evidence regarding which genetic test results have a sufficient evidence base for use in underwriting (8). A key recommendation ...
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The Clinical Genetics of Prostate Cancer
... Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades. One of the ...
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Clinical Genetics of Cancer 2017
... The aim of this study is to evaluate the effectiveness of neoadju- vant treatment with cisplatin chemotherapy in women with breast cancer and a BRCA1 mutation. One 131 women with breast cancer and a BRCA1 mutation, who ...
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Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases
... Abstract: Denmark has an extensive collection of national and regional medical registries. There are many advantages to registry-based research when investigating genetic diseases which, due to their rarity, can be ...
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Genetic screening programs for susceptibility to disease in Denmark
... What should be noted in the above broad definition of a screening program is the weight put on the investigation being carried out for the early detection of hereditary disease. This definition does not as such include ...
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Current models of care for disorders of sex development – results from an International survey of specialist centres
... managed clinical networks for rare conditions such as ...a clinical network should be to ensure the provision of an equitable state of-the-art service for all affected children and adoles- cents in a region ...
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Genome-wide association analysis identifies three new breast cancer susceptibility loci
... 8Department of Clinical Genetics, VU University Medical Center, section Oncogenetics, Amsterdam, The Netherlands 9Department of Internal Medicine and Epidemiology, Erasmus Medical Center[r] ...
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A trial of problem solving by community mental health nurses for anxiety, depression and life difficulties among general practice patients The CPN GP study
... Dr Eamonn Sheridan, Consultant in Clinical Genetics, Genetics Department, St James’s University Hospital, Leeds Dr Ken Stein, Senior Clinical Lecturer in Public Health, Director, Peninsu[r] ...
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
... Regional Genetics Service, Oxford Radcliffe Hospitals NHS Trust, The Churchill Old Road, Oxford OX3 7LJ, ...Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham Women’s Hospital, ...
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
... Oncogenetics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands 20 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Th[r] ...
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PubMedCentral-PMC4987173.pdf
... Medical Genetics and ...The clinical relevance of these variants, by definition, remains to be ...and clinical correlation of VUS are appropriate through clinical genetics evaluation ...
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Genetics, autoantibodies and clinical features in understanding and predecting rheumatoid arthritis
... associated clinical variables or gene-expression profi les with disease outcome, thereby providing help for clinicians in treatment decisions in several diseases ...using clinical variables that are easily ...
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Child Neurology: PRRT2-associated movement disorders and differential diagnoses
... DISCUSSION This case illustrates the diagnostic challenge when faced with distinguishing an atypical phenotype within the spectrum of PRRT2-associated movement disorders from an unrelated differential diagnosis in a ...
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A toolkit for incorporating genetics into mainstream medical services: Learning from service development pilots in England
... 'Mainstreaming Genetics' service development pilots covered a range of genetic conditions, clinical spe- cialities and service models, including: setting up or enhancing multidisciplinary clinics; ...
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Systematic review of the effectiveness and cost effectiveness of HealOzone® for the treatment of occlusal pit/fissure caries and root caries
... assumption about the proportions of teeth that would require additional treatment to HealOzone treatment alone. These assumptions are taken from a survey of 243 dentists who currently use HealOzone, of whom only 48 ...
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Computerised cognitive behaviour therapy for depression and anxiety update : a systematic review and economic evaluation
... The trial recruited 274 patients with anxiety and/or depression from seven general practices in the south-east of England and randomised them to receive either CCBT (146 patients) or TAU (128 patients). This trial is ...
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Evaluation of the general health of the infertile couples
... Materials and Methods: One hundred and fifty infertile couples attending Yazd Research and Clinical Center for Infertility were randomly selected during March till September 2009. The GHQ-28 questionnaires were ...
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What Is Narcissistic Personality Disorder? Lay Theories of Narcissism
... research demonstrating exactly how genetics causes NPD (Paris, 1996). This is supported by newborns showing differences in temperament (self regulation and reactivity) which is thought to have a biological basis ...
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