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Molecular Analysis of Fragile X Syndrome

Current Protocols in Human Genetics, 2009
AbstractThe gene responsible for Fragile X syndrome, fragile X mental retardation‐1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. Males with
Monica J, Basehore, Michael J, Friez
openaire   +3 more sources

Fragility Analysis and Seismic Record Selection

Journal of Structural Engineering, 2011
This paper explores the influence of spectrum-matched and amplitude-scaled ground motions on the development of fragility functions for structures. The quantification of the influence of these two types of ensembles on ground motions in predicting demands of structural and nonstructural systems is addressed.
G. P. Cimellaro   +3 more
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Seismic Fragility Analysis of Structural Systems

Journal of Engineering Mechanics, 2006
A method is presented for the evaluation of the seismic fragility function of realistic structural systems. The method is based on a preliminary, limited, simulation involving nonlinear dynamic analyses performed to establish the probabilistic characterization of the demands on the structure, followed by the solution of a general system reliability ...
PINTO, Paolo Emilio   +3 more
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Fragility analysis of transportation networks

SPIE Proceedings, 2003
This paper describes a method of evaluating seismic system performance of transportation network. The results are shown to demonstrate post-earthquake traffic behavior in animation. This will assist emergency response professionals to gain pre-event insight for developing optimal emergency response strategy.
Yuko Murachi   +3 more
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Fragility analysis for ballistic design

Structure and Infrastructure Engineering, 2016
AbstractEffective structural design to resist ballistic effects such as small arms or fragmenting weapons has been a goal since weapons were developed. Approaches currently in use for ballistic design are predominantly deterministic and allow designers to decide what wall thickness should be used to stop a prescribed projectile impacting at a ...
Patrick Trasborg   +3 more
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Fragility analysis of PID controllers

2009 IEEE International Conference on Control Applications, 2009
A set of controllers' fragility plots based on the delta epsilon fragility index, is proposed as a tool to analyze the influence of the proportional integral derivative (PID) controller parameters' variations over the control loop robustness. Examples are used to illustrate the use of the plots.
V. M. Alfaro, R. Vilanova, O. Arrieta
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Segregation analysis of rare autosomal fragile sites

Human Genetics, 1986
Segregation analyses were performed on pedigrees with rare autosomal fragile sites. The results of the analysis of pedigrees with folate sensitive fragile sites, including 2q1, 6p23, 7p11, 8q22, 9q32, 10q23, 11q13, 11q23, 12q13, 16p12, and 20p11, suggested that expression of the gene depended on the carrier parent: it was only 50% penetrant when ...
S L, Sherman, G R, Sutherland
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Molecular analysis of the fragile X syndrome

Journal of Inherited Metabolic Disease, 1992
SummaryThe molecular analysis of human X‐linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions.
M C, Hirst   +4 more
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Multilocus analysis of the fragile X syndrome

Human Genetics, 1988
A multilocus analysis of the fragile X (fra(X] syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping
W. T. Brown   +27 more
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