منابع مشابه
PReS-FINAL-2331: Low-penetrance NLRP3 variants
Methods This multi-center observational study included 45 patients (26 children and 19 adults) (study group). At baseline examination, all patients displayed some symptoms suggestive of CAPS. Genetic analysis detected one of the following NLRP3 variants: Q703K (n = 19), R488K (n = 6), and V198M (n = 20). Clinical presentation was recorded and inflammation markers were analyzed. Data from follow...
متن کاملPW02-040 - Low-penetrance NLRP3 variants
Methods This multi-center observational study included 44 patients (25 children and 19 adults). All patients were symptomatic with some symptoms suggesting possible CAPS at the time of baseline examination. Genetic analysis detected one of the following NLRP3 variants: Q703K (n=18), R488K (n=6), and V198M (n=20). Clinical phenotypes were described and laboratory markers were analyzed. In order ...
متن کاملLow-Penetrance Variants and Susceptibility to Sporadic Malignant Melanoma
Although malignant melanoma (MM) is mainly a sporadic disease, about 3 to 15% of the cases may show familial aggregation [1, 2]. The diagnosis of melanoma in different members of the same families does indeed suggest there is a genetically-based hereditary predisposi‐ tion in a significant percentage of the cases. However, this predisposition has proven to be genetically heterogeneous. Only two...
متن کاملPenetrance for copy number variants associated with schizophrenia.
The discovery of 'high-risk' de novo copy number variants (CNVs) associated with neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these findings into useful tools for clinical geneticists. However, this will require estimation of penetrance for these variants, which has not yet been properly considered. To facilitate this process, we estimated the penetrance ...
متن کاملLow-penetrance susceptibility variants in familial colorectal cancer.
BACKGROUND Genomewide association studies have identified 10 low-penetrance loci that confer modestly increased risk for colorectal cancer (CRC). Although they underlie a significant proportion of CRC in the general population, their impact on the familial risk for CRC has yet to be formally enumerated. The aim of this study was to examine the combined contribution of the 10 variants, rs6983267...
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ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2018
ISSN: 2574-8300,2574-8300
DOI: 10.1161/circgen.118.002166