Sentence examples for mutational screening for from inspiring English sources

The cost-effectiveness of a dysferlin gene mutation screening using DHPLC approaches has been reported in large groups of patients with the identification of many mutations, therefore validating the efficacy of genomic mutational screening for routine diagnosis.

Mutational screening for Stargardt patients has not been described in detail in Indian patients earlier.

DNA extraction of all samples and BRAF mutational screening for the 13 tumor samples was performed as described earlier [ 3].

Real-time polymerase chain reaction (PCR) mutational screening for phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) (exons 9 and 20) was carried out using PCR and direct sequencing following standard protocols [ 23].

All patients underwent targeted mutational screen for 42 candidate genes.

The size of the mapped regions of these 17 diseases varies between 0.6 and 7.75 megabases (figure 1) and renders mutational screens for disease association laborious and difficult.

First, numerous mutational screens for developmental defect mutant embryos have been performed, and many of these brought to light phenotypes that resemble disease symptoms or affected genes that were already known to play a role in certain pathological conditions.

The clinical definition of HNPCC diagnosis is based largely on the Amsterdam criteria (AC), which were set up in 1991 with the purpose of selecting families for mutational screening of mismatch repair (MMR) genes, whose germline pathogenic mutations cause this condition [ 2, 3].

Bone morphogenetic proteins (BMPs) affect induction and growth of the pituitary primordium and thus represent plausible candidates for mutational screening of patients with CPHD.

Genomic DNA for mutational screening of 1,141 unselected breast cancer patients was isolated from both peripheral blood samples (N = 691) and archival paraffin-embedded tissues (N = 450), using standardized procedures.

The high level of reproducibility, sensitivity and FFPE-compatibility make the Ion Proton (409-gene panel) sequencing valuable for mutational screening of tumour samples in a clinical molecular diagnostics laboratory.