Sentence examples for mutation cases were from inspiring English sources

All except two of the mutation cases were PgR+.

For the first time, 153 double and seven triple mutation cases were identified in NSCLC.

The effect of disease onset was similar regardless of whether the PSEN mutation cases were included in the analysis (t = 4.75, P < 0.001).

Thus, 11 (85%) of the 13 mutation cases were categorised as luminal A. Three GS scores were calculated for each sample at baseline.

Where available, volumetric brain MRI data for the C9ORF72 mutation cases were analysed using previously described semi-automated techniques and compared with the GRN and MAPT mutation groups.

Eight out of nine ATM-defective (11q-+ ATM mutation) cases were classified as dysfunctional (i.e., seven ATM-dysfunctional and one p53-dysfunctional) and one ATM-defective sample was classified as functional.

Thus, as KDM5C mutation cases are frequently indistinguishable from other genetic causes of ID based on clinical phenotype alone [ 15], DNA methylation analysis could complement KDM5C sequencing to provide more accurate molecular diagnosis leading to improved patient management.

This model appears to hold for vertebral, cardiac and renal malformations, but not in the GI tract, where malformations seen in FOXF1 mutation cases are different from those seen in whole cluster deletion patients.

The beta values for probes overlapping Illumina27 with significant loss of DNA methylation in KDM5C mutations cases were extracted for analysis.

This cannot be confirmed or refuted in this series because only one truncating mutation case is present, however, even 2 of the missense mutations had rapid disease progressions of 10 months or less.

29 With one exception, age of onset and offset of seizures amongst ZDHHC9 mutations cases was in keeping with the typical maturational profile of RE.