نتایج جستجو برای: congenital hearing loss
تعداد نتایج: 597503 فیلتر نتایج به سال:
Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 g...
BACKGROUND Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics. METHODS After excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected accordin...
CONTEXT Mutations in the GJB2 gene are the most common known cause of inherited congenital severe-to-profound deafness. The carrier frequency of these mutations is not known. OBJECTIVES To determine the carrier rate of deafness-causing mutations in GJB2 in the midwestern United States and the prevalence of these mutations in persons with congenital sensorineural hearing loss ranging in severi...
Background and Aim: Hearing impairment is one of the most common congenital defects. Unfortunately there have been no studies so far on the prevalence of various degrees of neonatal hearing, loss in Iran. As accurate determination of prevalence is crucial in estimating disease burden and planning subsequent interventions, we carried out this study to determine the prevalence of neonatal hearing...
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