Search Results - "Busi, Micol"
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Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes
Published in Audiology research (Pavia, Italy) (01-04-2024)“…Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves three main features: sensorineural hearing loss, retinitis pigmentosa…”
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Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies
Published in BioMed research international (01-01-2015)“…Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of…”
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Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects
Published in International journal of molecular medicine (01-10-2013)“…Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical…”
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LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations
Published in American journal of medical genetics. Part A (01-05-2011)“…We report on the first cases of FGF3 compound heterozygotes in two European families from non‐consanguineous marriages, affected with labyrinthine aplasia,…”
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Novel mutations in the SLC26A4 gene
Published in International journal of pediatric otorhinolaryngology (01-09-2012)“…Abstract Objectives Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical…”
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The universal newborn hearing screening program at the University Hospital of Ferrara: Focus on costs and software solutions
Published in International journal of pediatric otorhinolaryngology (01-06-2008)“…Summary In the present paper, the authors report the results of the Universal Newborn Hearing Screening (UNHS) project at the University Hospital of Ferrara. A…”
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Association of the 4 g/5 g polymorphism of plasminogen activator inhibitor-1 gene with sudden sensorineural hearing loss. A case control study
Published in BMC ear, nose and throat disorders (06-06-2012)“…The 5 G/5 G genotype of PAI-1 polymorphism is linked to decreased plasminogen activator inhibitor-1 (PAI-1) levels and it has been suggested that lower PAI-1…”
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