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List of works by Umberto Ambrosetti

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

scientific article

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness

scientific article published in May 2007

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

scientific article

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

scientific article

A wider role for congenital cytomegalovirus infection in sensorineural hearing loss

scientific article published in January 2003

Allergic contact dermatitis to hearing aids: literature and case reports.

scientific article published on May 2009

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

scientific article published in April 2009

Are results of tinnitus retraining therapy maintained over time? 18-month follow-up after completion of therapy

scientific article published on 15 April 2009

Audiologic Clinical Assessment

Audiological and vestibular symptoms following SARS-CoV-2 infection and COVID-19 vaccination in children aged 5–11 years

scientific article published in 2023

Audiological evaluation in adult beta-thalassemia major patients under regular chelation treatment.

scientific article published in November 2000

Audiological findings in Williams syndrome: A study of 69 patients

scientific article published on 12 March 2012

Auditory brainstem responses (ABR) in normal hearing adult subjects with Down's syndrome

scientific article published on 29 July 2008

Auditory late potentials in normal-hearing adult subjects with Down's syndrome

scientific article published in September 2012

Autologous fat grafting as a minimally invasive technique to avoid cochlear implant extrusion

scientific article published in 2022

Chronic cerebrospinal venous insufficiency in Ménière disease

scientific article published on 4 March 2014

Cochlear implantation in adolescents with prelinguistic deafness

scientific article published in June 2010

Effects of long-term nasal continuous positive airway pressure therapy on morphology, function, and mucociliary clearance of nasal epithelium in patients with obstructive sleep apnea syndrome

scientific article

Effects of salmeterol on cilia and mucus in COPD and pneumonia patients

scientific article published on February 2005

Effects of zafirlukast on bronchial asthma and allergic rhinitis

scientific article published in June 2003

Emerging ciliopathies: are respiratory cilia compromised in Usher syndrome?

scientific article

Four-Year Follow-up of Diagnostic Service in USH1 Patients

scientific article published on 08 June 2011

GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon

scientific article published on 29 November 2010

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

scientific article

Hearing aids for the treatment of tinnitus.

scientific article published on January 2007

Hearing outcomes in children with congenital cytomegalovirus infection: From management controversies to lack of parents' knowledge

scientific article published in 2023

Hearing outcomes in preterm infants with confirmed hearing loss

scientific article published in 2022

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein

scientific article published on September 2007

Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss

scientific article published in November 2005

Nasal ciliary beat after insertion of septo-valvular splints

scientific article published in May 2004

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Public awareness of ear and hearing management as measured using a specific questionnaire

scientific article published on 17 February 2012

Questionnaires to evaluate anxiety and depressive levels in tinnitus patients

scientific article published in March 2009

Results of TRT after eighteen months: our experience

scientific article published in May 2007

Risk factors for idiopathic sudden sensorineural hearing loss and their association with clinical outcome.

scientific article published on 7 January 2015

Sensorineural hearing-loss in the Smith–Lemli-Opitz syndrome

Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms

scientific article

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

scientific article

Tinnitus and Hearing Loss

Tinnitus aurium in persons with normal hearing: 55 years later

scientific article published in September 2008

Tinnitus patients lost to follow-up

scientific article

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

scientific article published on 6 January 2015

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