Nature

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

From mid-March to mid-November 2003, 1614 amniotic and chorionic villus samples (CVS) were referred to the Cytogenetic Laboratory for karyotyping and MLPA aneuploidy screening. Eight samples were ...
ascopubs.org

Quantitative copy number analysis by multiplex ligation-dependent probe amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness, and as such ...

Improving detection methods for PIK3CA mutations in breast cancer using peripheral blood from patients with metastastic breast cancer (MBC). This is an ASCO Meeting Abstract from the 2011 ASCO Annual ...
Nature

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ...