Early detection of hearing loss with connexin 26 gene assessment
Hearing loss is the most prevalent type of sensory impairment in human beings. Hearing
loss is a global problem. Genetic alteration accounts for 50% of the congenital deafness …
loss is a global problem. Genetic alteration accounts for 50% of the congenital deafness …
Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment
Homozygosity mapping within consanguineous families is a powerful method of localising
genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a …
genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a …
Risk factors and prevalence of newborn hearing loss in a private health care system of Porto Velho, Northern Brazil
JS Oliveira, LB Rodrigues, FS Aurélio… - Revista Paulista de …, 2013 - SciELO Brasil
OBJECTIVE: To determine the prevalence of hearing loss and to analyze the results of
newborn hearing screening and audiological diagnosis in private health care systems …
newborn hearing screening and audiological diagnosis in private health care systems …
The transmembrane inner ear (tmie) gene contributes to vestibular and lateral line development and function in the zebrafish (Danio rerio)
YC Shen, AK Jeyabalan, KL Wu… - Developmental …, 2008 - Wiley Online Library
The inner ear is a complex organ containing sensory tissue, including hair cells, the
development of which is not well understood. Our long‐term goal is to discover genes critical …
development of which is not well understood. Our long‐term goal is to discover genes critical …
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders
A Eaton, FP Bernier, C Goedhart… - American Journal of …, 2018 - Wiley Online Library
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete
phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined …
phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined …
Delayed auditory pathway maturation in the differential diagnosis of hypoacusis in young children
C Talero-Gutiérrez, I Carvajalino-Monje… - International journal of …, 2008 - Elsevier
Auditory deficiencies have profound implications for the development of communication
abilities, social exchange, and cognitive skills. Although advances in technological …
abilities, social exchange, and cognitive skills. Although advances in technological …
Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss
Y Chen, Y Liu, B Wang, J Mao, T Wang, K Ye… - Prenatal …, 2016 - Wiley Online Library
Objective Inherited non‐syndromic hearing loss (NSHL) is a common sensory disorder that
afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance …
afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance …
Application of a new genetic deafness microarray for detecting mutations in the deaf in China
H Wu, Y Feng, L Jiang, Q Pan, Y Liu, C Liu, C He… - PLoS …, 2016 - journals.plos.org
Objective The aim of this study was to evaluate the GoldenGate microarray as a diagnostic
tool and to elucidate the contribution of the genes on this array to the development of both …
tool and to elucidate the contribution of the genes on this array to the development of both …
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss
M Tan, X Shen, J Yao, Q Wei… - International …, 2014 - spandidos-publications.com
Hearing loss is the most common sensory deficit in humans and gaining a better
understanding of the underlying causes is necessary to improve counseling and …
understanding of the underlying causes is necessary to improve counseling and …
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness
M de Freitas Cordeiro-Silva, A Barbosa… - Molecular biology …, 2011 - Springer
In developed countries deafness has a genetic cause in over 60% of the cases.
Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are caused by genetic …
Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are caused by genetic …