Genetic etiology of non-syndromic hearing loss in Latin America

K Lezirovitz, RC Mingroni-Netto - Human Genetics, 2022 - Springer
Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …

Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review

TA Lindau, ACV Cardoso, NF Rossi… - International Archives …, 2014 - thieme-connect.com
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic
condition with high penetrance and variable expressivity, with an estimated prevalence of 1 …

Systematic review of pathogenic GJB2 variants in the Latino population

MH Bouzaher, CP Worden, A Jeyakumar - Otology & Neurotology, 2020 - journals.lww.com
Objectives: Define the extent to which GJB2-related hearing loss is responsible for non-
syndromic hearing loss (NSHL) in the Latino population. Methods: Preferred Reporting Items …

Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

SPB Pêgo, RD Coletta, S Dumitriu, D Iancu… - Oral Surgery, Oral …, 2017 - Elsevier
Enamel-renal syndrome (OMIM# 204690) is an uncommon disorder characterized by
amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We …

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

GN Manzoli, G Bademci, AX Acosta… - Annals of human …, 2016 - Wiley Online Library
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the
extreme genetic heterogeneity in HL and the population‐specific variability. In this study …

Sensorineural hearing loss: a changing paradigm for its evaluation

ADL Jayawardena, AE Shearer… - … –Head and Neck …, 2015 - journals.sagepub.com
Objective To determine how practicing clinicians evaluate patients with sensorineural
hearing loss (SNHL) and to analyze the cost-effectiveness of current algorithms in the …

Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

VCS de Moraes, E Bernardinelli, N Zocal… - Molecular …, 2016 - Springer
Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …

Diagnostic value of 3D segmentation in understanding the anatomy of human inner ear including malformation types

S Alenzi, A Dhanasingh, H Alanazi… - Ear, Nose & Throat …, 2021 - journals.sagepub.com
Objective: To understand the anatomical and dimensional variations of the human inner ear
using 3-dimensional (3D) segmentation within the Middle East population. Design …

Etiology of early hearing loss in Brazilian children

M Faistauer, A Lang Silva, TM Félix… - Brazilian Journal of …, 2022 - SciELO Brasil
Introduction Hearing loss etiology depends on the population studied as well as on the
ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis …

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

YS Kim, Y Kim, HW Jeon, N Yi, SY Lee, Y Kim… - Scientific Reports, 2022 - nature.com
Determining the etiology of severe-to-profound sensorineural hearing loss (SP-SNHL) in
pediatric subjects is particularly important in aiding the decision for auditory rehabilitation …