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We conducted a genome-wide association study to identify the genetic variants contributing to this phenotype using a carefully phenotyped collection of 210 DS + AVSD cases and 242 DS + NH controls to complement our genome-wide CNV study (Ramachandran et al. 2014).
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Here, using individuals with DS as a "sensitized" population, we conducted a genome-wide association study on a carefully phenotyped collection of individuals from extreme ends of the spectrum.
In addition to a carefully phenotyped cohort, we have a rich biospecimen repository.
The rs2227744G>A SNP was genotyped in a carefully phenotyped cohort of 203 COPD cases and matched controls.
We identified pharmacogenetic studies using a carefully designed search strategy.
Using a carefully validated TLR4-specific antibody for immunohistochemistry (IHC), we found that TLR4 protein expression was primarily present in breast cancers of ER/PR-negative phenotype.
Using a cohort of carefully phenotyped Malawian patients, we have undertaken high-resolution sequence-based genotyping to determine whether alleles in 5 loci in the class I and II major histocompatibility complex (MHC) regions on chromosome 6 (HLA- DRB1, DQB1, A, B, or C) are predisposing factors for nevirapine hypersensitivity.
The hope was that studies of G × E, using carefully phenotyped individuals, might yield robust results that could be replicated.
42 The estimates were in agreement with a previous meta-analysis from carefully phenotyped cohort studies.
All samples were carefully phenotyped and matched for age, gender, race, body mass index, genotype, duration of infection, alcohol use, and viral load.
Using a spatula, carefully fold in the coconut.
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