Most of episodic or progressive syndromes show familial clustering. A detailed phenotyping
with a complete familial history of vestibular symptoms is required to conduct a genetic …

Abstract Background Enlarged Vestibular Aqueduct (EVA) is one of the most common
congenital malformations associated with sensorineural or mixed hearing loss. The …

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …

Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases
of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold …

Recessive variants of the SLC26A4 gene are globally a common cause of hearing
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …

Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …

Purpose To estimate the probability of high-risk genetic matching when assisted
reproductive techniques (ART) are applied with double gamete donation, following an NGS …

目的: 应用新一代测序技术(NGS) 对门诊确诊为感音神经性聋的患儿进行基因检测,
分析耳聋家庭致病基因的携带状况和遗传规律等信息, 为遗传咨询, 产前诊断 …

En los países desarrollados la necesidad de recurrir a técnicas de reproducción asistida
con donación de gametos va en aumento debido principalmente al retraso en el deseo …

A perda auditiva é um distúrbio sensorial muito frequente em seres humanos. Acredita-se
que em países desenvolvidos cerca de 50% dos casos tenham origem genética. A perda …