We performed a second-generation genome-wide association study of 4,533 individuals with
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …

… The other transcript carrying the I278T mutation and a premature termination codon may
be unstable and was detected in very low amounts in the nucleus [Sperandeo et al., 1996a]. …

Lysinuric protein intolerance (LPI, MIM 222700) is an autosomal recessive multisystem
disorder found mainly in Finland and Italy. On a normal diet, LPI patients present poor feeding, …

Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in
Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in …

Interest in transthoracic ultrasound (US) procedures increased after the availability of
portable US equipment suitable for use at the patient’s bedside. It is possible to detect space-…

In 1998, Mowat et al. described six patients with a new syndrome characterized by mental
retardation, a distinct facial appearance, microcephaly and Hirschsprung disease (HSCR). …

Although numerous studies have been conducted on the use of ultrasonography (US) for the
examination of thoracic structures, this procedure is not as widely accepted as abdominal …

… patients with CRD and cultivated in vitro [Sperandeo and Sebastio, unpublished data]. The
… NF-kB) was seen after arginine challenge [Sperandeo and Sebastio, unpublished data]. NF-…

The purpose of this study was to identify the ultrasonographic features of mild, moderate and
severe pulmonary fibrosis. Between December 2005 and November 2007, transthoracic …

Clinical application of transthoracic ultrasonography in inpatients with pneumonia -
Sperandeo - 2011 - European Journal of Clinical Investigation - Wiley Online Library …