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2020

Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia

Piatti, G., De Santi, M. M., Farolfi, A., Zuccotti, G. V., D'Auria, E., Patria, M. F., Torretta, S., Consonni, D. & Ambrosetti, U., Apr 13 2020, In : BMC Pediatrics. 20, 1, 158.

Research output: Contribution to journalArticle

Open Access

Psychometric properties of the Italian Tinnitus Functional Index (TFI)

Barozzi, S., Del Bo, L., Passoni, S., Ginocchio, D., Negri, L., Crocetti, A. & Ambrosetti, U., Jun 1 2020, In : Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale. 40, 3, p. 230-237 8 p.

Research output: Contribution to journalArticle

Vestibular and audiological findings in the Alport syndrome

Barozzi, S., Soi, D., Intieri, E., Giani, M., Aldè, M., Tonon, E., Signorini, L., Renieri, A., Fallerini, C., Perin, P., Montini, G. & Ambrosetti, U., 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2019

Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: An observational study in Italy

Pellegrinelli, L., Galli, C., Primache, V., Alde, M., Fagnani, E., Di Berardino, F., Zanetti, D., Pariani, E., Ambrosetti, U. & Binda, S., Jul 22 2019, In : BMC Infectious Diseases. 19, 1, 652.

Research output: Contribution to journalArticle

Open Access

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Morgan, A., Vuckovic, D., Krishnamoorthy, N., Rubinato, E., Ambrosetti, U., Castorina, P., Franzè, A., Vozzi, D., La Bianca, M., Cappellani, S., Di Stazio, M., Gasparini, P. & Girotto, G., Jan 2019, In : European Journal of Human Genetics. 27, 1, p. 70-79 10 p.

Research output: Contribution to journalArticle

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Morgan, A., Vuckovic, D., Krishnamoorthy, N., Rubinato, E., Ambrosetti, U., Castorina, P., Franzè, A., Vozzi, D., La Bianca, M., Cappellani, S., Di Stazio, M., Gasparini, P. & Girotto, G., 2019, In : European Journal of Human Genetics. 27, 1, p. 70-79

Research output: Contribution to journalArticle

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, p. 107769 1 p.

Research output: Contribution to journalArticle

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, 107769.

Research output: Contribution to journalArticle

2018

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan, A., Lenarduzzi, S., Cappellani, S., Pecile, V., Morgutti, M., Orzan, E., Ghiselli, S., Ambrosetti, U., Brumat, M., Gajendrarao, P., Bianca, M. L., Faletra, F., Grosso, E., Sirchia, F., Sensi, A., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., 2018, In : Frontiers in Genetics. 2018 Dec 21, 9:681, p. 681

Research output: Contribution to journalArticle

Open Access

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

Vuckovic, D., Mezzavilla, M., Cocca, M., Morgan, A., Brumat, M., Catamo, E., Concas, M. P., Biino, G., Franzè, A., Ambrosetti, U., Pirastu, M., Gasparini, P. & Girotto, G., 2018, In : European Journal of Human Genetics. 26, 8, p. 1167-1179 13 p.

Research output: Contribution to journalArticle

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

Vuckovic, D., Mezzavilla, M., Cocca, M., Morgan, A., Brumat, M., Catamo, E., Concas, M. P., Biino, G., Franzè, A., Ambrosetti, U., Pirastu, M., Gasparini, P. & Girotto, G., Aug 2018, In : European Journal of Human Genetics. 26, 8, p. 1167-1179 13 p.

Research output: Contribution to journalArticle

2017

Cilia and Ear: A Study on Adults Affected by Primary Ciliary Dyskinesia

Piatti, G., De Santi, M. M., Torretta, S., Pignataro, L., Soi, D. & Ambrosetti, U., Apr 1 2017, In : Annals of Otology, Rhinology and Laryngology. 126, 4, p. 322-327 6 p.

Research output: Contribution to journalArticle

Effects of tinnitus retraining therapy with different colours of sound

Barozzi, S., Ambrosetti, U., Callaway, S. L., Behrens, T., Passoni, S. & Bo, L. D., Dec 1 2017, In : International Tinnitus Journal. 21, 2, p. 139-143 5 p.

Research output: Contribution to journalArticle

2016

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Soldà, G., Caccia, S., Robusto, M., Chiereghin, C., Castorina, P., Ambrosetti, U., Duga, S. & Asselta, R., Apr 1 2016, In : Journal of Human Genetics. 61, 4, p. 295-300 6 p.

Research output: Contribution to journalArticle

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Soldà, G., Caccia, S., Robusto, M., Chiereghin, C., Castorina, P., Ambrosetti, U., Duga, S. & Asselta, R., Apr 1 2016, In : Journal of Human Genetics. 61, 4, p. 295-300 6 p.

Research output: Contribution to journalArticle

2015

Chronic cerebrospinal venous insufficiency in Ménière disease

Di Berardino, F., Alpini, D. C., Bavera, P. M., Cecconi, P., Farabola, M., Mattei, V., Ambrosetti, U. & Cesarani, A., May 9 2015, In : Phlebology. 30, 4, p. 274-279 6 p.

Research output: Contribution to journalArticle

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

Fransen, E., Bonneux, S., Corneveaux, J. J., Schrauwen, I., Di Berardino, F., White, C. H., Ohmen, J. D., Van De Heyning, P., Ambrosetti, U., Huentelman, M. J., Van Camp, G. & Friedman, R. A., Jan 11 2015, In : European Journal of Human Genetics. 23, 1, p. 110-115 6 p.

Research output: Contribution to journalArticle

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

Passamonti, S. M., Di Berardino, F., Bucciarelli, P., Berto, V., Artoni, A., Gianniello, F., Ambrosetti, U., Cesarani, A., Pappalardo, E. & Martinelli, I., Mar 1 2015, In : Thrombosis Research. 135, 3, p. 508-512 5 p.

Research output: Contribution to journalArticle

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

Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S. & Soldà, G., Jun 15 2015, In : European Journal of Human Genetics. 23, 6, p. 766-773 8 p.

Research output: Contribution to journalArticle

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

Lenarduzzi, S., Vozzi, D., Morgan, A., Rubinato, E., D'Eustacchio, A., Osland, T. M., Rossi, C., Graziano, C., Castorina, P., Ambrosetti, U., Morgutti, M. & Girotto, G., Feb 1 2015, In : Hearing Research. 320, p. 18-23 6 p.

Research output: Contribution to journalArticle

2014

Emerging ciliopathies: Are respiratory cilia compromised in Usher syndrome?

Piatti, G., De Santi, M. M., Brogi, M., Castorina, P. & Ambrosetti, U., 2014, In : American Journal of Otolaryngology - Head and Neck Medicine and Surgery. 35, 3, p. 340-346 7 p.

Research output: Contribution to journalArticle

2013

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

Di Berardino, F., Forti, S., Iacona, E., Orlandi, G. P., Ambrosetti, U. & Cesarani, A., Feb 2013, In : European Archives of Oto-Rhino-Laryngology. 270, 2, p. 449-453 5 p.

Research output: Contribution to journalArticle

2012

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

Soldà, G., Robusto, M., Primignani, P., Castorina, P., Benzoni, E., Cesarani, A., Ambrosetti, U., Asselta, R. & Duga, S., Feb 2012, In : Human Molecular Genetics. 21, 3, p. 577-585 9 p., ddr493.

Research output: Contribution to journalArticle

Audiological findings in Williams syndrome: A study of 69 patients

Barozzi, S., Soi, D., Comiotto, E., Borghi, A., Gavioli, C., Spreafico, E., Gagliardi, C., Selicorni, A., Forti, S., Ambrosetti, U., Cesarani, A. & Brambilla, D., Apr 2012, In : American Journal of Medical Genetics, Part A. 158 A, 4, p. 759-771 13 p.

Research output: Contribution to journalArticle

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

Arisi, E., Forti, S., Amadeo, C., Fagnani, E., Filipponi, E., Iacona, E., Ambrosetti, U. & Cesarani, A., Sep 2012, In : Otology and Neurotology. 33, 7, p. 1113-1117 5 p.

Research output: Contribution to journalArticle

2011

Four-year follow-up of diagnostic service in USH1 patients

Roux, A. F., Faugère, V., Vaché, C., Baux, D., Besnard, T., Léonard, S., Blanchet, C., Hamel, C., Mondain, M., Gilbert-Dussardier, B., Edery, P., Lacombe, D., Bonneau, D., Holder-Espinasse, M., Ambrosetti, U., Journel, H., David, A., Lina-Granade, G., Malcolm, S. & Claustres, M., Jun 2011, In : Investigative Ophthalmology and Visual Science. 52, 7, p. 4063-4071 9 p.

Research output: Contribution to journalArticle

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

Trotta, L., Iacona, E., Primignani, P., Castorina, P., Radaelli, C., Bo, L. D., Coviello, D. & Ambrosetti, U., Feb 2011, In : International Journal of Audiology. 50, 2, p. 133-138 6 p.

Research output: Contribution to journalArticle

2010

Cochlear implantation in adolescents with prelinguistic deafness

Arisi, E., Forti, S., Pagani, D., Todini, L., Torretta, S., Ambrosetti, U. & Pignataro, L., Jun 2010, In : Otolaryngology - Head and Neck Surgery. 142, 6, p. 804-808 5 p.

Research output: Contribution to journalArticle

Tinnitus patients lost to follow-up

Forti, S., Ambrosetti, U., Crocetti, A. & Del Bo, L., Dec 2010, In : International Journal of Audiology. 49, 12, p. 877-880 4 p.

Research output: Contribution to journalArticle

Tinnitus sound therapy with open ear canal hearing aids

Forti, S., Crocetti, A., Scotti, A., Costanzo, S., Pignataro, L., Ambrosetti, U. & Del Bo, L., Sep 2010, In : B-ENT. 6, 3, p. 195-199 5 p.

Research output: Contribution to journalArticle

2009

Allergic contact dermatitis to hearing aids: Literature and case reports

Di Berardino, F., Pigatto, P. D., Ambrosetti, U. & Cesarani, A., May 2009, In : Contact Dermatitis. 60, 5, p. 291-293 3 p.

Research output: Contribution to journalArticle

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

Primignani, P., Trotta, L., Castorina, P., Lalatta, F., Sironi, F., Radaelli, C., Degiorgio, D., Curcio, C., Travi, M., Ambrosetti, U., Cesarani, A., Garavelli, L., Formigoni, P., Milani, D., Murri, A., Cuda, D. & Coviello, D. A., Apr 2009, In : Genetic Testing and Molecular Biomarkers. 13, 2, p. 209-217 9 p.

Research output: Contribution to journalArticle

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

Forti, S., Costanzo, S., Crocetti, A., Pignataro, L., Del Bo, L. & Ambrosetti, U., Jul 2009, In : Audiology and Neurotology. 14, 5, p. 286-289 4 p.

Research output: Contribution to journalArticle

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

Hilgert, N., Huentelman, M. J., Thorburn, A. Q., Fransen, E., Dieltjens, N., Mueller-Malesinska, M., Pollak, A., Skorka, A., Waligora, J., Ploski, R., Castorina, P., Primignani, P., Ambrosetti, U., Murgia, A., Orzan, E., Pandya, A., Arnos, K., Norris, V., Seeman, P., Janousek, P. & 37 others, Feldmann, D., Marlin, S., Denoyelle, F., Nishimura, C. J., Janecke, A., Nekahm-Heis, D., Martini, A., Mennucci, E., Tóth, T., Sziklai, I., del Castillo, I., Moreno, F., Petersen, M. B., Iliadou, V., Tekin, M., Incesulu, A., Nowakowska, E., Bal, J., Van de Heyning, P., Roux, A. F., Blanchet, C., Goizet, C., Lancelot, G., Fialho, G., Caria, H., Liu, X. Z., Xiaomei, O., Govaerts, P., Grønskov, K., Hostmark, K., Frei, K., Dhooge, I., Vlaeminck, S., Kunstmann, E., Van Laer, L., Smith, R. J. H. & Van Camp, G., 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

Questionnaires to evaluate anxiety and depressive levels in tinnitus patients

Crocetti, A., Forti, S., Ambrosetti, U. & Bo, L. D., Mar 2009, In : Otolaryngology - Head and Neck Surgery. 140, 3, p. 403-405 3 p.

Research output: Contribution to journalArticle

2008

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

Rodríguez-Ballesteros, M., Reynoso, R., Olarte, M., Villamar, M., Morera, C., Santarelli, R., Arslan, E., Medá, C., Curet, C., Völter, C., Sainz-Quevedo, M., Castorina, P., Ambrosetti, U., Berrettini, S., Frei, K., Tedín, S., Smith, J., Tapia, M. C., Cavallé, L., Gelvez, N. & 8 others, Primignani, P., Gómez-Rosas, E., Martín, M., Moreno-Pelayo, M. A., Tamayo, M., Moreno-Barral, J., Moreno, F. & Del Castillo, I., Jun 2008, In : Human Mutation. 29, 6, p. 823-831 9 p.

Research output: Contribution to journalArticle

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

Forti, S., Amadeo, C., Fagnani, E., Filipponi, E., Pignataro, L., Cesarani, A. & Ambrosetti, U., Oct 3 2008, In : Brain Research. 1233, p. 58-62 5 p.

Research output: Contribution to journalArticle

Prevalenza della sordità in soggetti di età superiore ai 65 anni. Studio pilota in un campione di popolazione Lombarda.

Translated title of the contribution: Prevalence of hearing loss in elderly individuals over 65 years of age: a pilot study in Lombardia (Italy)Arpesella, M., Ambrosetti, U., De Martini, G., Emanuele, L., Lottaroli, S., Redaelli, T., Sarchi, P., Segagni Lusignani, L., Traverso, A. & Cesarani, A., Sep 2008, In : Igiene e sanità pubblica. 64, 5, p. 611-621 11 p.

Research output: Contribution to journalArticle

Tinnitus aurium in persons with normal hearing: 55 years later

Del Bo, L., Forti, S., Ambrosetti, U., Costanzo, S., Mauro, D., Ugazio, G., Langguth, B. & Mancuso, A., Sep 2008, In : Otolaryngology - Head and Neck Surgery. 139, 3, p. 391-394 4 p.

Research output: Contribution to journalArticle

2007

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

Primignani, P., Trotta, L., Castorina, P., Lalatta, F., Cuda, D., Murri, A., Ambrosetti, U., Cesarani, A., Curcio, C., Coviello, D. & Travi, M., May 2007, In : Laryngoscope. 117, 5, p. 821-824 4 p.

Research output: Contribution to journalArticle

Hearing aids for the treatment of tinnitus

Del Bo, L. & Ambrosetti, U., 2007, In : Progress in Brain Research. 166, p. 341-345 5 p.

Research output: Contribution to journalArticle

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

Fugazzola, L., Cirello, V., Dossena, S., Rodigheiro, S., Muzza, M., Castorina, P., Lalatta, F., Ambrosetti, U., Beck-Peccoz, P., Bottà, G. & Paulmichl, M., Sep 2007, In : European Journal of Endocrinology. 157, 3, p. 331-338 8 p.

Research output: Contribution to journalArticle

Results of TRT after eighteen months: Our experience

Baracca, G. N., Forti, S., Crocetti, A., Fagnani, E., Scotti, A., Bo, L. D. & Ambrosetti, U., May 2007, In : International Journal of Audiology. 46, 5, p. 217-222 6 p.

Research output: Contribution to journalArticle

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

Di Berardino, F., Alpini, D., Ambrosetti, U., Amadeo, C. & Cesarani, A., Sep 2007, In : International Journal of Pediatric Otorhinolaryngology Extra. 2, 3, p. 169-172 4 p.

Research output: Contribution to journalArticle

2005

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

Piatti, G., Ambrosetti, U., Santus, P. & Allegra, L., Feb 2005, In : Pharmacological Research. 51, 2, p. 165-168 4 p.

Research output: Contribution to journalArticle

GJB2 mutations and degree of hearing loss: A multicenter study

Snoeckx, R. L., Huygen, P. L. M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A. R., Nekahm-Heis, D., Seeman, P., Bendova, O. & 44 others, Kenna, M. A., Frangulov, A., Rehm, H. L., Tekin, M., Incesulu, A., Dahl, H. H. M., Du Sart, D., Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K. B., Brownstein, Z., Del Castillo, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P. M., Cohn, E. S., Van Maldergem, L., Hilbert, P., Roux, A. F., Mondain, M., Hoefsloot, L. H., Cremers, C. W. R. J., Löppönen, T., Löppönen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Van De Heyning, P., Nishimura, C. J., Smith, R. J. H. & Van Camp, G., Dec 2005, In : American Journal of Human Genetics. 77, 6, p. 945-957 13 p.

Research output: Contribution to journalArticle

Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss

Capaccio, P., Ottaviani, F., Cuccarini, V., Ambrosetti, U., Fagnani, E., Bottero, A., Cenzuales, S., Cesana, B. M. & Pignataro, L., Nov 2005, In : American Journal of Otolaryngology - Head and Neck Medicine and Surgery. 26, 6, p. 383-387 5 p.

Research output: Contribution to journalArticle