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Article
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa
The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel for the identification of genetic varia...
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Article
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5′ regulatory element of SOX9. To date, six CS families were resolved at the molecular...
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Chapter
Diagnostic Imaging in the Degenerative Diseases of the Cervical Spine
The aim of this chapter would be to help the clinician, with the support of imaging, in the diagnosis of patients whith degenerative changes of the cervical spine, and to make differential diagnoses with other...
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Article
Open AccessElastosonographic features of the metacarpophalangeal joint capsule in horses
Capsulitis leads to the release of inflammatory mediators in the joint, causing capsular fibrosis and osteoarthritis (OA). Strain elastosonography (SE) measures the elasticity of tissue by evaluating its strai...
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Article
Open AccessThe transcriptome profile of human trisomy 21 blood cells
Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...
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Article
Open AccessMutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...
