Results 271 to 280 of about 96,454 (308)

Molecular Analysis of Fragile X Syndrome

Current Protocols in Human Genetics, 2003
AbstractThe gene responsible for fragile X syndrome, fragile X mental retardation‐1 (FMR1), contains an unstable repeat sequence of (CGG)n. Additionally, an upstream promoter region of the gene—a CpG island—is abnormally methylated in most affected individuals.
Sarah L, Nolin, Carl, Dobkin, W Ted, Brown   +2 more
openaire   +2 more sources

Methylation Analysis of the Fragile X Syndrome by PCR

Genetic Testing, 1997
The fragile X syndrome is predominantly caused by a large expansion of a CGG trinucleotide repeat in the promoter region of the FMR1 gene, which is associated with methylation and downregulation of transcription. The molecular diagnosis of this disorder is based on repeat size and methylation analysis of the FMR1 gene usually by Southern blot analysis.
S, Das, T, Kubota, M, Song, R, Daniel, E M, Berry-Kravis, T W, Prior, B, Popovich, L, Rosser, T, Arinami, D H, Ledbetter   +9 more
openaire   +2 more sources

Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations

Human Genetics, 1985
Fragile X chromosome preparations were analyzed at levels of up to 850 bands per haploid set. We were able to consistently sublocalize the Xqter fragile site to band Xq27.3 using high-resolution methods. Chromosome length versus the frequency of fragile X expression was also compared.
M S, Krawczun, E C, Jenkins, W T, Brown
openaire   +2 more sources

Are results from randomized trials in anesthesiology robust or fragile? An analysis using the fragility index

International Journal of Evidence-Based Healthcare, 2019
ABSTRACT Aim: In anesthesiology, the findings from randomized controlled trials often underpin guidelines influencing clinical decision-making and therefore directly affect patient care. The aim of this study is to evaluate the fragility index and fragility quotient of randomized controlled trials published in the ...
Kale, Goerke, Matthew, Parke, Jarryd, Horn, Chase, Meyer, Kody, Dormire, Brad, White, Trevor, Bright, Corbin, Walters, Matt, Vassar   +8 more
openaire   +2 more sources

Fragility Analysis for the Bridge Control Benchmark Problem

Civil-Comp Proceedings, 2009
This study evaluates the fragility curves of a cable stayed bridge using Monte Carlo simulations. The presentation of the vulnerability information in the form of fragility curves is a widely practiced approach when several uncertain sources are involved.
CASCIATI F., CIMELLARO, GIAN PAOLO, DOMANESCHI, MARCO   +2 more
openaire   +2 more sources

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Human Molecular Genetics, 1994
This study addresses mechanism of instability of the FMR-1 (CGG)n-repeat, and investigates features which may distinguish between normal stable and fragile X unstable repeats. To achieve this, we have sequenced 178 alleles to analyze patterns of AGG interruptions within the CGG repeat, and have typed the (CA)n-repeat at DXS548 for 204 chromosomes ...
K, Snow, D J, Tester, K E, Kruckeberg, D J, Schaid, S N, Thibodeau   +4 more
openaire   +2 more sources

Reassessing Fragility: A Comparative Analysis of the Fragility Index With the Relative Risk Index

2023
Abstract Background In biostatistics, assessing the fragility of research findings is crucial for understanding their clinical significance. This study focuses on the fragility index, unit fragility index, and relative risk index as measures to evaluate statistical fragility.
openaire   +1 more source

FRAGILITY IN DAIRY PRODUCT DEMAND ANALYSIS

1999
Several reasons justify the expectation of increasingly price elastic demand for dairy products. Using weekly scanner data, we find support for this hypotheses, but with wide variation in elasticity estimates across model specifications. The results demonstrate the need for more routine specification testing before basing recommendations on potentially
Maynard, Leigh J., Liu, Deyu, Maynard, Leigh J., Liu, Deyu   +3 more
openaire   +1 more source

Seismic fragility analysis of nuclear power plants considering structural parameter uncertainty

Reliability Engineering and System Safety, 2021
Yan-Gang Zhao, Zhao-Hui Lu
exaly  

ESG performance and stock price fragility

Finance Research Letters, 2023
Hu Wang, Shouwei Li
exaly