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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.

Genetics in medicine : official journal of the American College of Medical Genetics | 2020

Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic germline variants in SMAD4 and BMPR1A. We aimed to gather detailed clinical and molecular genetic information on JPS disease expression to provide a basis for management guidelines and establish open access variant databases.

Pubmed ID: 32398773 RIS Download

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Associated grants

  • Agency: Department of Health, United Kingdom
    Id: IS-BRC-1215–20007

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EMBASE (tool)

RRID:SCR_001650

Comprehensive international bibliographic biomedical database that enables users to track and retrieve precise information on drugs and diseases from pre-clinical studies to searches on critical toxicological information. It contains bibliographic records with citations, abstracts and indexing derived from biomedical articles in peer reviewed journals, and is especially strong in its coverage of drug and pharmaceutical research. Embase can help with everything from clinical trials research to pharmacovigilance and is updated online daily and weekly. Its broad biomedical scope covers the following areas: * Drug therapy and research, including pharmaceutics, pharmacology and toxicology * Clinical and experimental (human) medicine * Basic biological science relevant to human medicine * Biotechnology and biomedical engineering, including medical devices * Health policy and management, including pharmacoeconomics * Public, occupational and environmental health, including pollution control * Veterinary science, dentistry, and nursing The Embase Application Programming Interface supports export, RSS feeds, and integration services, making it possible to share data with a wide range of systems.

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PsycINFO (tool)

RRID:SCR_014799

Database for published, indexed resources pertaining to psychological, psychiatric and other behavioral and social science research. Users can search for resources by document type, research methodology, and funding source.

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Microsoft Excel (tool)

RRID:SCR_016137

Software application with data analysis tools and spreadsheet templates to track and visualize data. It is used to manage and process data.

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