Screening for deletions of all or part of genes poses a challenge in the diagnostic laboratory.
Numerous methods are available for detecting deletions of a few base pairs or very large …

This well presented laboratory manual contains the following chapters:(1) polymerase chain
reaction: basic principles and automation (Taylor, GR);(2) PCR in genetic diagnosis (Ivinson …

We designed a polymerase chain reaction (PCR) for amplifying the Helicobacter pylori gene
encoding 16S rRNA. Primers for the specific detection of H. pylori were designed for areas of …

Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect
recessive inherited disorder in humans. Affected women, although developmentally normal …

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first
year after birth. Using exome sequencing, we identified mutations in the nicotinamide …

The critical importance of cytoskeletal function for correct neuronal migration during
development of the cerebral cortex has been underscored by the identities of germline …

Abstract Background: Mutations in Ki-ras codon 12 and the p53 gene are common
abnormalities in colorectal cancer. The occurrence of p53 overexpression and/or Ki-ras …

Autozygosity mapping of recessive disorders using small numbers of highly inbred families
is a powerful tool for disease gene identification. With the advent of cheap rapid methods for …

Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the
uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis …

The use of next-generation sequencing technologies to produce genomic copy number data
has recently been described. Most approaches, however, reply on optimal starting DNA, and …