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

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.70-79

2019

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Vascular Factors in Patients with Midlife Sensorineural Hearing Loss and the Progression to Mild Cognitive Impairment

Medicina (Kaunas, Lithuania), 2023-02, Vol.59 (3), p.481

2023

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The Absence of Permanent Sensorineural Hearing Loss in a Cohort of Children with SARS-CoV-2 Infection and the Importance of Performing the Audiological "Work-Up"

Children (Basel), 2022-11, Vol.9 (11), p.1681

2022

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NeonaTal Assisted TelerehAbilitation (T.A.T.A. Web App) for Hearing-Impaired Children: A Family-Centered Care Model for Early Intervention in Congenital Hearing Loss

Audiology research (Pavia, Italy), 2022-03, Vol.12 (2), p.182-190

2022

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X-Linked Sensorineural Hearing Loss: A Literature Review

Current genomics, 2018-08, Vol.19 (5), p.327-338

2018

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Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019

European archives of oto-rhino-laryngology, 2022-03, Vol.279 (3), p.1221-1231

2022

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

European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1167-1179

2018

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Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report

International journal of pediatric otorhinolaryngology, 2020-07, Vol.134, p.110018-110018, Article 110018

2020

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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

BMC medical genetics, 2017-02, Vol.18 (1), p.10-10, Article 10

2017

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GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss

Current genomics, 2011-11, Vol.12 (7), p.475-485

2011

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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1348-1352

2017

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Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations

Cytogenetic and genome research, 2019-01, Vol.158 (1), p.25-31

2019

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Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

European journal of human genetics : EJHG, 2014-08, Vol.23 (5), p.563-564

2014

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Integrated Bimodal Fitting for Unilateral CI Users with Residual Contralateral Hearing

Audiology research (Pavia, Italy), 2021-05, Vol.11 (2), p.200-206

2021

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SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

Clinical chemistry and laboratory medicine, 2016-09, Vol.54 (9), p.e259

2016

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Enhanced Glutathione Levels and Oxidoresistance Mediated by Increased Glucose-6-phosphate Dehydrogenase Expression

The Journal of biological chemistry, 1999-01, Vol.274 (5), p.2750-2757

1999

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Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy

International journal of pediatric otorhinolaryngology, 2013-03, Vol.77 (3), p.329-333

2013

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Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Molecular cytogenetics, 2015-03, Vol.8 (1), p.18-18, Article 18

2015

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R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2658-2660

2010

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Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme

International journal of audiology, 2011-12, Vol.50 (12), p.866-870

2011

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Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation

American journal of otolaryngology, 2014, Vol.35 (1), p.70-72

2014

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New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.685-688

2009

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Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Indian journal of otolaryngology, and head, and neck surgery, 2014-09, Vol.66 (3), p.297-301

2014

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Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

International journal of audiology, 2010-04, Vol.49 (4), p.326-331

2010

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Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region

Human molecular genetics, 2000-02, Vol.9 (3), p.395-401

2000

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

Vascular Factors in Patients with Midlife Sensorineural Hearing Loss and the Progression to Mild Cognitive Impairment

The Absence of Permanent Sensorineural Hearing Loss in a Cohort of Children with SARS-CoV-2 Infection and the Importance of Performing the Audiological "Work-Up"

NeonaTal Assisted TelerehAbilitation (T.A.T.A. Web App) for Hearing-Impaired Children: A Family-Centered Care Model for Early Intervention in Congenital Hearing Loss

X-Linked Sensorineural Hearing Loss: A Literature Review

Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019

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

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings

Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

Integrated Bimodal Fitting for Unilateral CI Users with Residual Contralateral Hearing

SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

Enhanced Glutathione Levels and Oxidoresistance Mediated by Increased Glucose-6-phosphate Dehydrogenase Expression

Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG

Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme

Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region

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