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PURPOSE To develop a sequencing assay for the gene to identify mutations in patients with cystic fibrosis (CF). METHODS An automated assay format was developed to sequence all exons and splice junctional sequences, the promotor region, and parts of introns 11 and 19. RESULTS After validating the assay using 20 known samples, DNA of seven patients, four(More)
Because standard techniques used to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene do not detect single or multiple exonic rearrangements, the importance of such rearrangements may be underestimated. Using an in-house developed, single-tube, semi-quantitative fluorescent PCR (SQF PCR) assay, we analyzed 36 DNA(More)
OBJECTIVE To investigate the developmental effects of clozapine and other atypical antipsychotics on infants who were exposed to as fetus. METHOD The developmental progress of 33 infants who were exposed to clozapine as fetus was compared to 30 infants who were exposed to risperidone, olanzapine or quetiapine as fetus by assessing Apgar scoring, birth(More)
Psychometric functions are predominately used for estimating detection thresholds in vision and audition. However, the requirement of large data quantities for fitting psychometric functions (>30 replications) reduces their suitability in olfactory studies because olfactory response data are often limited (<4 replications) due to the susceptibility of human(More)
PURPOSE We sought to determine the genotype frequencies for cytochrome p450 enzyme 2C19 variant alleles both in the US pan-ethnic population and various US ethnic groups and to establish the frequency of clinically actionable genotypes. METHODS Analytical results were obtained from 1,396 consecutive samples submitted for cytochrome p450 enzyme 2C19(More)
OBJECTIVE To define the conditions of hepatitis C virus (HCV) infections, and geographic and demographic distributions of genotypes in China. METHODS HCV infected patients were selected from individuals with different patterns of liver diseases and high risk populations in different parts of China. Genotypes of HCV in some isolates were further analyzed,(More)
Although it has been known that gammadelta T cells may play an important role in the immune response to infection of Mycobacterium tuberculosis (M. tb), the mechanisms by which the gammadelta T cells participate in the innate and/or acquired immunity to tuberculosis (TB) have not been full elucidated. In the present study, 27 patients with active pulmonary(More)
The aim of this study was to determine chemerin levels in preeclampsia and to assess the effects of this anti-inflammatory factor on endothelial nitric oxide synthase (eNOS), nuclear factor (NF)-κB, and vascular cell adhesion molecule (VCAM) expression in human umbilical vein endothelial cells (HUVECs). Serum chemerin and eNOS levels were measured by(More)
Cystic fibrosis (CF) is one of the most common monogenic diseases affecting Caucasians and has an incidence of approximately 1:3,300 births. Currently recommended screening panels for mutations in the responsible gene (CF transmembrane regulator gene, CFTR) do not detect all disease-associated mutations. Our laboratory offers extensive sequencing of the(More)
PURPOSE Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR1 5'-untranslated region. Southern blot analysis is typically required to determine expansion size for triplet repeat lengths >200. We describe a triplet-primed polymerase chain reaction-based method using automated capillary electrophoresis(More)