Sentence examples for identification of expansions from inspiring English sources

Exact(1)

However, four years after the 1996 identification of expansions in ATXN2 as the molecular basis of SCA2, a pathogenic length expansion bearing an "interrupted" repeat sequence was first reported [20].

Similar(59)

In addition to function evaluations, measurements of the function gradient is also included to accelerate the identification of expansion coefficients.

For a large class of orthogonal basis functions, there has been a recent identification of expansion methods for computing accurate, stable approximations of a quantity of interest.

VPP's chief executive oversees the private equity approach: top-to-bottom reviews of the hand-picked charity; identification of expansion opportunities and management goals; and clear targets backed by quarterly reviews to ensure benchmarks are getting hit.

Identification of repeat expansions in the general population during mutation screening of neurologically normal controls [ 1, 4] suggests that C9ORF72 expansions may actually be as common in "controls" as in specific clinical phenotypes, such as corticobasal syndrome (CBS) and sporadic Creutzfeldt Jakob disease [ 1, 5].

We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions.

Southern blot allows the identification of all expansions as well as the determination of the methylation status, when combined with a methylation-sensitive endonuclease.

Frontotemporal dementia (FTD) is a common cause of early-onset dementia with a significant genetic component, as underlined by the recent identification of repeat expansions in the gene C9ORF72 as a major cause of FTD and motor neuron disease.

However, a major recent breakthrough in the genetics of FTLD and amyotrophic lateral sclerosis has been the identification of hexanucleotide expansions in chromosome 9 open reading frame 72 (C9ORF72) gene (TDP-43 pathology), which classically cause FTD amyotrophic lateral sclerosis overlap syndromes [ 5▪▪, 6▪▪].

This study introduces a process of analyzing UGS using landscape metrics and identification of potential expansion areas through suitability checklist and proximity buffering done in a GIS environment.

Calibrated CTA images had higher sensitivity for ICH expansion (76 vs 52%) but inferior specificity (35 vs 63%) compared with uncalibrated images.Normalization of CTA images using phantom data is a feasible strategy to obtain consistent image quantification for spot sign analysis across different sites and may improve sensitivity for identification of ICH expansion.

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