Sentence examples for mutations were recruited from inspiring English sources

Subjects with presymptomatic PSEN1 mutations were recruited from a large cohort that has participated in our studies since 1985 [ 20].

Forty-five patients with FRMD7 mutations were recruited for subsequent high-resolution retinal phenotyping using optical coherence tomography.

Cases with early onset or familial breast cancer, free from BRCA1/2 mutations, were recruited at the genetic counselling clinic in Silesia between 1997 and 2006.

PSTPIP1 molecules with PAPA-associated mutations are recruited by pyrin to ASC specks with particularly high efficiency, suggesting a unique mechanism underlying the robust inflammatory phenotype of PAPA syndrome.

A 29-year-old woman with known homozygous intronic ISCU mutations was recruited for study (Sanaker et al, 2010).

Women aged 35 49 years at high risk of breast cancer, either because they have a strong family history of breast cancer or are tested carriers of a BRCA1, BRCA2 or TP53 mutation or are at a 50% risk of having inherited such a mutation, were recruited from 22 centres and offered annual MRI and XRM for between 2 and 7 years.

However, for modeling purposes, all available mutation carriers were recruited to obtain a relatively homogeneous group of subjects at risk of developing DCM.

HBM LRP5 mutation carriers were recruited from the UK-based HBM study cohort (Gregson et al., 2012) (see Supplemental Information).

We used the information available before 2003, with the exception of information about four eligible families segregating a deleterious BRCA1/ BRCA2 mutation, which were recruited by July 2003.

PTEN or LKB1 mutation carriers were recruited through various Italian cancer genetics clinics and fulfilled the diagnostic clinical criteria for PJS or PHTS, [ 16, 17] and/or they were carriers of the familial disease-causing mutation.

Mutation carriers were recruited from a large family (Family LA) from the German-spoken part of northern Italy (Tyrol) with familial adult-onset parkinsonism caused by mutations in the Parkin gene.