[HTML][HTML] PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

MS Cigoli, F Avemaria, S De Benedetti, GP Gesu… - PLoS …, 2014 - journals.plos.org
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause
seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an …

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

…, GP Gesu, E Manfredini, P Primignani… - European Journal of …, 2015 - Elsevier
Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have
significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been …

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

…, R Asselta, L Mauri, E Manfredini, S Penco, GP Gesu… - Gene, 2014 - Elsevier
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and
eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. …

Detection of the first OCA6 Italian patient in a large cohort of albino subjects

E Veniani, L Mauri, E Manfredini, GP Gesu… - Journal of …, 2016 - jdsjournal.com
Oculocutaneous albinism (OCA) is characterized by general hypopigmentation of skin, hair
and eye, and by specific ophthalmologic abnormalities caused by a deficiency in melanin …

Managing an extensively drug-resistant tuberculosis outbreak: the public health face of the medal

…, D Cirillo, E Borroni, GP Gesu… - European …, 2015 - Eur Respiratory Soc
We read with interest the letter by Espositoet al. [1], reporting on the clinical management of
a paediatric case of extensively drug-resistant tuberculosis (XDR-TB) in Milan, Italy, who …

Community-acquired Clostridium difficile infection in children: a retrospective study

…, C Moretti, EF Stacul, R Lipreri, GP Gesu… - Digestive and Liver …, 2015 - Elsevier
… Francesca Stacul a , Rita Lipreri a , Giovanni Pietro Gesu b , Costantino De Giacomo a …
Statistical significance was set at P < 0.05. Graph pad statistical software was used for all …

Levofloxacin and ciprofloxacin in vitro activities against 4,003 clinical bacterial isolates collected in 24 Italian laboratories

GP Gesu, F Marchetti, L Piccoli… - Antimicrobial agents and …, 2003 - Am Soc Microbiol
… In our study, a close correlation between FQ resistance and β-lactamase production in P.
mirabilis was confirmed (data not shown). The 33.8% P. aeruginosa nonsusceptibility to …

[HTML][HTML] Epidemiology and outcome of Clostridium difficile infections in patients hospitalized in Internal Medicine: findings from the nationwide FADOI-PRACTICE …

…, G Panigada, G Gussoni, E Bonizzoni, GP Gesu - BMC Infectious …, 2016 - Springer
Background Clostridium difficile (CD) is a leading cause of diarrhoea among hospitalized
patients. The objective of this study was to evaluate the rate, the optimal diagnostic work-up, …

[HTML][HTML] Clinical evaluation and molecular screening of a large consecutive series of albino patients

…, A Rossetti, G Marsico, M Mazza, GP Gesu… - Journal of human …, 2017 - nature.com
… Y519* in homozygous state, the novel missense mutation p.G267E in homozygous state
and the missense mutations p.E140* and p.R164G in compound heterozygosity, whereas the …

[HTML][HTML] Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

…, E Andreucci, S Bargiacchi, S Penco, GP Gesu… - Journal of human …, 2015 - nature.com
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and
eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. …