Sentence examples for mutation carrier demonstrated from inspiring English sources

27% of the E200K patients and 44% of the V210I mutation carrier demonstrated typical periodic sharp wave complexes (PSWC) on EEG.

Histopathology of autopsied brain of SQSTM1 mutation carriers demonstrated a widespread neuronal and glial phospho-TDP-43 pathology.

Thirty-six of the 51 DL samples demonstrated benign cytology (70.6%) and two samples from BRCA mutation carriers demonstrated mild atypia (3.9%).

In the white matter tract of interest analysis, presymptomatic mutation carriers demonstrated decreased mean diffusivity (P = 0.043) and axial diffusivity (P = 0.011) in the right cingulum only (Table 3).

Finally, analysis of the variant in a set of patients with positive family history who were not BRCA1 or BRCA2 germline mutation carriers demonstrated a significantly elevated frequency of the 1100delC variant as compared with controls.

104 An initial Phase I study of olaparib in a cohort enriched for BRCA1/2 mutation carriers demonstrated evidence of in vivo anti-PARP activity (using PARP activity measurement in peripheral blood mononuclear cells and the surrogate marker of γH2AX induction, which accumulates at DSBs) and evidence of response in 40% BRCA carriers.

Patient 47: a 67-year-old BRCA 2-mutation carrier demonstrated a short but marked response to gemcitabine and cisplatin with a significant improvement in pain control and a 90% reduction in tumour marker CA 19-9.

Overall, TERT mutation carriers demonstrate reduced life expectancy, with a mean age of death of 58 and 67 years for males and females, respectively.

This validity stems from the fact that populations of female Premutation carriers demonstrate similar deficits on spatiotemporal processing tasks as the CGG KI mice and Full Mutation carriers demonstrate clear spatiotemporal deficits on standardized testing.

Mutation carriers demonstrate biochemical and neuroimaging changes that can precede dementia by 15 years or more and may be used to identify windows of time relative to specific pathophysiologic events in disease [ 4, 15].

The purpose of our study was to establish whether healthy BRCA mutation carriers demonstrate an increased frequency of aberrant gene promoter hypermethylation in ductal lavage (DL) fluid, compared with predictive genetic test negative controls, that might serve as a surrogate marker of BRCA1/2 mutation status and/or breast cancer risk.