Sentences with phrase «unrelated patients»

Seeing it around the same time in two unrelated patients in the same hospital is considered unusual.

All six genes could be validated, and showed significant expression differences between unrelated patients with diabetes and nondiabetic subjects in the same direction as the discordant twins (Fig. 1B and D).

During the course of the study, we identified one additional unrelated patient with a comparable phenotype.

Jennifer Posey and colleagues retrospectively analyzed data from 7,374 consecutive unrelated patients referred for a clinical lab for «exome sequencing», which sequences the coding regions of all genes (around 3 % of the genome).

The four unrelated patients in the Bainbridge study had de novo nonsense and frameshift mutations in ASXL3 (not ASXL1).

Data sharing is critical for safe and effective genomic services, where diagnosis depends on integrating a patient's genomic and clinical data, and also comparing this with data from unrelated patients with the same or similar conditions.

The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote.

They also found that unrelated patients with the same condition had different mutations that stopped GPR54 from doing its job.

Now Cecilia Lai, Simon Fisher and colleagues, reporting in todays Nature, show that a gene on chromosome 7, which they call FOXP2, is mutated in the affected members of the KE family, as well as in an unrelated patient with a similar language deficit.

A few years ago, Matt Bainbridge and his colleagues at Baylor had sequenced four unrelated patients with a disorder resembling Bohring - Opitz syndrome.