Valentina Cipriani

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Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; project are the phenotype vocabulary, disease-phenotype annotations and the(More)
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and(More)
This is the fifth statistics note produced by the Ophthalmic Statistics Group (OSG) which is designed to be a simple guide to ophthalmic researchers on a statistical issue with an applied ophthalmic example. The OSG is a collaborative group of statisticians who have come together with a desire to raise the statistical standards of ophthalmic researcher by(More)
Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An(More)
The mechanisms by which alcohol consumption worsens the evolution of chronic hepatitis C (CHC) are poorly understood. We have investigated the possible interaction between hepatitis C virus (HCV) and ethanol in promoting oxidative stress. Circulating IgG against human serum albumin (HSA) adducted with malondialdehyde (MDA-HSA), 4-hydroxynonenal (HNE-HSA),(More)
OBJECTIVES Age-related macular degeneration (AMD) is the commonest cause of blindness in Western populations. Risk is influenced by age, genetic and environmental factors. Complement activation appears to be important in the pathogenesis and associations have been found between AMD and genetic variations in complement regulators such as complement factor H.(More)
T he goals of every modern neurosurgeon during surgery for intracranial tumors can be summarized as follows: 1) a small and less invasive craniotomy; 2) a resection as wide as possible; 3) the preservation of eloquent areas and white matter major tracts (WMMTs); and 4) the minimization of postoperative morbidity. The development of image-guided neurosurgery(More)
DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variants have been strongly associated with age-related macular degeneration(More)
SCENARIO In clinical trials, continuous outcomes, such as intraocular pressure and visual acuity, are often measured both before treatment (ie, at baseline) and after treatment. Having the baseline measurement allows us to account for the initial differences between patients, which may well have arisen by chance, when comparing the outcomes of alternative(More)
The most frequent type of Krabbe disease has an infantile onset. Unusual slowly progressive adult forms have also been described. We described a different involvement of white matter tracts where magnetic resonance signal alterations were evident in a case of a patient affected by late-onset form of disease.