Nature

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

Purpose: To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications. Methods: We have developed a high-resolution comparative genomic ...
Nature

Array comparative genomic hybridization and its applications in cancer

Array CGH has been implemented using a wide variety of techniques. The initial approaches used arrays with elements produced by spotting DNA obtained directly from large-insert genomic clones such as ...
jmg.bmj

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.
jmg.bmj

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

Correspondence to Dr Svetlana A Yatsenko, Department of Pathology, University of Pittsburgh, Gynecology & Reproductive Sciences, School of Medicine, 300 Halket St, Room 1233, Pittsburgh, PA 15213, USA ...