Publications by authors named "Rosamaria Santarelli"

30Publications

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

J Hum Genet 2020 Oct 28;65(10):855-864. Epub 2020 May 28.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1038/s10038-020-0783-1DOI Listing
October 2020

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol 2018 Jan 31;104:88-93. Epub 2017 Oct 31.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy; Neuroscience Department, University of Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.10.042DOI Listing
January 2018

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain 2016 06 25;139(Pt 6):e34. Epub 2016 Mar 25.

3 Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy 4 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.

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http://dx.doi.org/10.1093/brain/aww052DOI Listing
June 2016

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.

Hear Res 2015 Dec 15;330(Pt B):200-12. Epub 2015 Jul 15.

Department of Neurology, University of California, Irvine, CA 92697, USA.

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http://dx.doi.org/10.1016/j.heares.2015.07.007DOI Listing
December 2015

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity.

Neurodegener Dis 2015 17;15(2):114-20. Epub 2015 Mar 17.

Department of Neurosciences, University of Padova, Padova,Italy.

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http://dx.doi.org/10.1159/000375307DOI Listing
January 2016

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Brain 2015 Mar 5;138(Pt 3):563-76. Epub 2015 Jan 5.

3 Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy 4 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy.

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http://dx.doi.org/10.1093/brain/awu378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339771PMC
March 2015

Temporal bone high-resolution computed tomography in non-syndromic unilateral hearing loss in children.

ORL J Otorhinolaryngol Relat Spec 2012 21;74(2):70-7. Epub 2012 Feb 21.

Servizio di Audiologia e Foniatria, Department of Medical and Surgical Specialties, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1159/000335586DOI Listing
August 2012

Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.

Genome Med 2010 Dec 22;2(12):91. Epub 2010 Dec 22.

Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua, Via Giustiniani 2, I-35128 Padua, Italy.

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http://dx.doi.org/10.1186/gm212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025433PMC
December 2010

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

Brain Res 2009 Dec 3;1300:97-104. Epub 2009 Sep 3.

Department of Pediatrics, University of California, Irvine, CA, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000689930901809
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http://dx.doi.org/10.1016/j.brainres.2009.08.083DOI Listing
December 2009

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.

J Assoc Res Otolaryngol 2009 Dec 28;10(4):545-56. Epub 2009 Jul 28.

Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua, Via Giustiniani 2, I-35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10162-009-0181-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774414PMC
December 2009

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol 2009 Oct 16;73(10):1458-63. Epub 2009 Jul 16.

Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2009.06.003DOI Listing
October 2009

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

Int J Audiol 2009 Jan;48(1):12-7

Servizio di Audiologia e Foniatria, Dipartimento Specialita Medico-Chirurgiche, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1080/14992020802400654DOI Listing
January 2009

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Int J Pediatr Otorhinolaryngol 2009 Jan 5;73(1):127-31. Epub 2008 Nov 5.

Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2008.09.019DOI Listing
January 2009

Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy.

Clin Neurophysiol 2008 May 20;119(5):1028-41. Epub 2008 Mar 20.

Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua, Via Giustiniani 2, I-35128 Padua, Italy.

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http://dx.doi.org/10.1016/j.clinph.2008.01.018DOI Listing
May 2008

Cochlear implantation outcome in prelingually deafened young adults. A speech perception study.

Audiol Neurootol 2008 7;13(4):257-65. Epub 2008 Feb 7.

Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1159/000115435DOI Listing
August 2008

Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions.

Eur Arch Otorhinolaryngol 2008 Jan 14;265(1):43-51. Epub 2007 Aug 14.

Department of Medical and Surgical Specialities, Audiology and Phoniatric Service, University of Padova, Via Giustiniani, 2, 35128, Padova, Italy.

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http://dx.doi.org/10.1007/s00405-007-0412-zDOI Listing
January 2008

Auditory neuropathy in systemic sclerosis: a speech perception and evoked potential study before and after cochlear implantation.

Eur Arch Otorhinolaryngol 2006 Sep 9;263(9):809-15. Epub 2006 Jun 9.

Department of Medical and Surgical Specialities, Audiology and Phoniatric Service, Treviso Hospital, University of Padova, Via Giustiniani 2, 35128 Padova, Italy.

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http://dx.doi.org/10.1007/s00405-006-0075-1DOI Listing
September 2006

Effects of isoflurane on auditory middle latency (MLRs) and steady-state (SSRs) responses recorded from the temporal cortex of the rat.

Brain Res 2003 May;973(2):240-51

Audiology and Phoniatric Service, Department of Medical and Surgical Specialities, University of Padua, Via Giustiniani 2, I-35128 Padua, Italy.

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http://dx.doi.org/10.1016/s0006-8993(03)02520-4DOI Listing
May 2003

Effects of isoflurane on the auditory brainstem responses and middle latency responses of rats.

Acta Otolaryngol 2003 Jan;123(2):176-81

Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua, Italy.

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http://dx.doi.org/10.1080/0036554021000028108DOI Listing
January 2003

Electrocochleography in auditory neuropathy.

Hear Res 2002 Aug;170(1-2):32-47

Department of Medical and Surgical Specialities, Audiology and Phoniatric Service, University of Padova, Via Giustiniani 2, I-35128, Padua, Italy.

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http://dx.doi.org/10.1016/s0378-5955(02)00450-1DOI Listing
August 2002