Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound

I Schrijver - The Journal of molecular diagnostics, 2004 - Elsevier
Tremendous progress has been made in our understanding of the molecular basis of
hearing and hearing loss. Through recent advances, we have begun to understand the …

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

J Finsterer, J Fellinger - International journal of pediatric …, 2005 - Elsevier
Half of the cases with congenital impaired hearing are hereditary (HIH). HIH may occur as
part of a multisystem disease (syndromic HIH) or as disorder restricted to the ear and …

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

R Varga, MR Avenarius, PM Kelley, BJ Keats… - Journal of medical …, 2006 - jmg.bmj.com
Introduction: The majority of hearing loss in children can be accounted for by genetic
causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children …

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

G Girotto, N Pirastu, R Sorice, G Biino… - Journal of medical …, 2011 - jmg.bmj.com
Background Hearing is a complex trait, but until now only a few genes are known to
contribute to variability of this process. In order to discover genes and pathways that underlie …

[HTML][HTML] Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

G Girotto, K Abdulhadi, A Buniello, D Vozzi, D Licastro… - PloS one, 2013 - journals.plos.org
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of
prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial …

[HTML][HTML] Genetic linkage analysis of 15 DFNB loci in a group of Iranian families with autosomal recessive hearing loss

MA Tabatabaiefar, F Alasti, MM Zohour… - Iranian journal of …, 2011 - ncbi.nlm.nih.gov
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans.
Autosomal recessive non-syndromic HL (ARNSHL) is the most common type of hereditary …

Psychiatric disorders in otoneurology patients

A Eckhardt-Henn, M Dieterich - Neurologic clinics, 2005 - neurologic.theclinics.com
Nearly half the patients who are in specialized otoneurologic units exhibit psychiatric
disorders [1]. The disorders are most significant in patients who have the chief symptoms of …

The role of connexins in human disease

EH Chang, G Van Camp, RJH Smith - Ear and hearing, 2003 - journals.lww.com
Connexins are the building blocks of gap junctions. In forming a gap junction, six connexins
oligomerize to form a hexameric torus called a connexon. The number of gap junctions in a …

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis

AMM Oonk, JM Leijendeckers, EM Lammers… - Hearing Research, 2013 - Elsevier
Since deafness is the most common sensorineural disorder in humans, better understanding
of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch …

1552 例中重度感音神经性聋患者SLC26A4 基因外显子7 和8 序列测定及热点突变分析

戴朴, 袁永一, 康东洋, 李琦, 朱庆文, 张昕, 刘丽贤… - 中华医学杂志, 2007 - cqvip.com
目的调查全国21 个地区聋哑学生SLC26A4 基因热点突变及其发病频率, 由此分析和推测中国
人大前庭水管综合征的流行病学状况. 方法调查对象来自全国21 个省市自治区的聋哑学校学生 …