Francesca Bruno

Daniela Cocchi2
Daniele Lilleri1
2Daniela Cocchi
1Daniele Lilleri
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BACKGROUND Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1,(More)
OBJECTIVE To determine the contributions of body mass, adiposity, and muscularity to physical function and muscle strength in adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). MATERIALS AND METHODS Evaluation involved one UCMD and 7 BM patients. Body composition was determined by body mass index (BMI) and(More)
Investigating the relationship between vegetation cover and substrate typologies is important for habitat conservation. To study these relationships, common practice in modern ecological surveys is to collect information regarding vegetation cover and substrate typology over fine regular lattices, as derived from digital ground photos. Information on(More)
Following primary human cytomegalovirus (HCMV) infection, both humoral and T-cell-mediated immune responses develop in immunocompetent subjects. However, while antibodies may be measured by different methodologies, the T-cell-mediated response remains to be analyzed in its polyfunctional aspects, in view of defining (following different stimuli) the optimal(More)
In this study a conceptual framework for assessing the statistical properties of a non-stochastic spatial interpolator is developed through the use of design-based finite population inference tools. By considering the observed locations as the result of a probabilistic sampling design, we propose a standardized weighted predictor for spatial data starting(More)
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