Detalhe da pesquisa
1.
Vascular Factors in Patients with Midlife Sensorineural Hearing Loss and the Progression to Mild Cognitive Impairment.
Medicina (Kaunas)
; 59(3)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36984482
2.
Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019.
Eur Arch Otorhinolaryngol
; 279(3): 1221-1231, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33768315
3.
Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.
Cytogenet Genome Res
; 158(1): 25-31, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31055587
4.
X-Linked Sensorineural Hearing Loss: A Literature Review.
Curr Genomics
; 19(5): 327-338, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30065609
5.
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 Med Genet
; 18(1): 10, 2017 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28143435
6.
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Am J Med Genet A
; 173(5): 1348-1352, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322498
7.
Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation.
Am J Otolaryngol
; 35(1): 70-2, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119296
8.
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.
Audiol Res
; 12(2): 182-190, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35447741
9.
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)
; 9(11)2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360409
10.
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss.
Clin Chem Lab Med
; 54(9): e259-63, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26894580
11.
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
Int J Audiol
; 50(12): 866-70, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21916817
12.
Targeted Audiological Surveillance Program in Campania, Italy.
Indian Pediatr
; 58(5): 441-444, 2021 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408273
13.
Integrated Bimodal Fitting for Unilateral CI Users with Residual Contralateral Hearing.
Audiol Res
; 11(2): 200-206, 2021 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065802
14.
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
Int J Audiol
; 49(4): 326-31, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20233142
15.
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.
Int J Pediatr Otorhinolaryngol
; 134: 110018, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251972
16.
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
Am J Med Genet A
; 149A(4): 685-8, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18688874
17.
Age-related hearing loss in four Italian genetic isolates: an epidemiological study.
Int J Audiol
; 48(7): 465-72, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19925333
18.
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Eur J Hum Genet
; 27(1): 70-79, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177775
19.
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.
Eur J Hum Genet
; 26(8): 1167-1179, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725052
20.
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
Am J Med Genet A
; 152A(10): 2658-60, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20815033