GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

Ethical, social, and cultural issues related to clinical genetic testing and counseling in low-and middle-income countries: a systematic review

A Zhong, B Darren, B Loiseau, LQB He, T Chang… - Genetics in …, 2021 - nature.com
Purpose We performed a systematic review of the ethical, social, and cultural issues
associated with delivery of genetic services in low-and middle-income countries (LMICs) …

Concurrent hearing and genetic screening of 180,469 neonates with follow-up in Beijing, China

P Dai, LH Huang, GJ Wang, X Gao, CY Qu… - The American Journal of …, 2019 - cell.com
Concurrent hearing and genetic screening of newborns is expected to play important roles
not only in early detection and diagnosis of congenital deafness, which triggers intervention …

The frequency of common deafness-associated variants among 3,555,336 newborns in China and 141,456 individuals across seven populations worldwide

J Zhang, H Wang, C Yan, J Guan, L Yin, L Lan… - Ear and …, 2023 - journals.lww.com
Objectives: Genetic screening can benefit early detection and intervention for hearing loss.
The frequency of common deafness-associated variants in general populations is highly …

Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis

W Jing, H Zongjie, F Denggang, H Na, Z Bin… - Journal of medical …, 2015 - jmg.bmj.com
Background Genetic variations, including mitochondrial mutations, are important
contributors to hearing loss, especially in children, and newborn genetic screens for hearing …

PharmGKB summary: very important pharmacogene information for: MT-RNR1

JM Barbarino, TL McGregor, RB Altman… - Pharmacogenetics and …, 2016 - journals.lww.com
Introduction Mitochondria generate cellular energy in the form of ATP through the process of
oxidative phosphorylation. The generation of ATP by mitochondria is critical for survival, and …

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

C D'Aguillo, S Bressler, D Yan, R Mittal… - … journal of audiology, 2019 - Taylor & Francis
Objective: Universal newborn hearing screening (UNHS) uses otoacoustic emissions testing
(OAE) and auditory brainstem response testing (ABR) to screen all newborn infants for …

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

A Saldaña-Martínez, M de Lourdes Muñoz… - Gene, 2019 - Elsevier
Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular
metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may …

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 …

[HTML][HTML] Nonsyndromic hearing loss and deafness, mitochondrial

SI Usami, SY Nishio - 2018 - europepmc.org
Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural
hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be …