5q35.3

Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid… Expand

Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we… Expand

Angiosarcomas (AS) are rare vascular malignancies that arise either de novo as primary tumors or secondary to irradiation or… Expand

The identification of genetic aberrations may help understand the mechanisms of tumorigenesis and has important implications in… Expand

PURPOSE To identify markers that can predict overall survival in patients with high-grade advanced stage serous adenocarcinomas… Expand

BACKGROUND Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions… Expand

We used array-based comparative genomic hybridization (aCGH) to measure genomic copy number alterations (CNAs) in 42… Expand

We observed a novel 3.5 Mb 5q subtelomeric deletion in a 3-year-old girl with developmental delay, hypotonia and multiple minor… Expand

Primary lymphedema is a chronic tissue swelling, most frequently of the lower limbs, resulting from deficient lymphatic drainage… Expand

Molecular cDNA cloning, two-dimensional gel immunoblotting, and amino acid microsequencing identified three sequence-unique and… Expand