نتایج جستجو برای: genetic syndromes

تعداد نتایج: 687913  

Journal: :Circulation 2007
Elizabeth A Stephenson Charles I Berul

IInherited arrhythmia syndromes are electrical myopathies with genetic origins and risk of sudden death. They may present from infancy through adulthood, although the specific diseases have stereotypic but variable phenotypic onset and severity. There is clinical and genetic overlap among the syndromes, with variable penetrance and expressivity. Although underlying mechanisms of arrhythmogenesi...

2017
Monica Coll Alexandra Pérez-Serra Jesus Mates Bernat del Olmo Marta Puigmulé Anna Fernandez-Falgueras Anna Iglesias Ferran Picó Laura Lopez Ramon Brugada Oscar Campuzano

Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance a...

Journal: :Hereditary Cancer in Clinical Practice 2017

Journal: :Journal of gastrointestinal and liver diseases : JGLD 2017
Lakshmi Manogna Chintalacheruvu Trudy Shaw Avanija Buddam Osama Diab Thamer Kassim Sandeep Mukherjee Henry T Lynch

Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer...

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