Newborn hearing screening—a silent revolution
CC Morton, WE Nance - New England Journal of Medicine, 2006 - Mass Medical Soc
The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …
has dramatically increased the identification of hearing loss in infants. Recent advances in …
Sensorineural hearing loss in children
During the past three to four decades, the incidence of acquired sensorineural hearing loss
(SNHL) in children living in more developed countries has fallen, as a result of improved …
(SNHL) in children living in more developed countries has fallen, as a result of improved …
Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo
Mutations in Atp2b2, an outer hair cell gene, cause dominant hearing loss in humans. Using
a mouse model Atp2b2 Obl/+, with a dominant hearing loss mutation (Oblivion), we show …
a mouse model Atp2b2 Obl/+, with a dominant hearing loss mutation (Oblivion), we show …
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …
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 …
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …
[HTML][HTML] American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
RL Alford, KS Arnos, M Fox, JW Lin, CG Palmer… - Genetics in …, 2014 - Elsevier
Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non …
FJ Del Castillo, M Rodriguez-Ballesteros… - Journal of medical …, 2005 - jmg.bmj.com
METHODS This study was done on probands with ARNSHI and their relatives from Spain,
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …
[HTML][HTML] Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li, A Abou Tayoun, M DiStefano, A Pandya… - Genetics in …, 2022 - Elsevier
Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …
Genome-wide patterns of homozygosity provide clues about the population history and adaptation of goats
Background Patterns of homozygosity can be influenced by several factors, such as
demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped …
demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped …
Characterization of heterozygosity-rich regions in Italian and worldwide goat breeds
G Chessari, A Criscione, D Marletta, P Crepaldi… - Scientific Reports, 2024 - nature.com
Heterozygosity-rich regions (HRR) are genomic regions of high heterozygosity, which may
harbor loci related to key functional traits such as immune response, survival rate, fertility …
harbor loci related to key functional traits such as immune response, survival rate, fertility …