منابع مشابه
Genetic Study of Syndromic Inherited Deafness
The study comprised 25 patients with Syndromic genetic hearing loss. They were selected from the Audiology Unit, Faculty of Medicine, and the Human Genetics clinic, Medical Research Institute, , Alexandria University. Their ages ranged from 2.5 to 19 years. Males were more affected than females (M/F ratio = 2:1). T he high parental consanguinity (63.2 %) emphasizes the contribution of autosomal...
متن کاملReview Hearing molecules: contributions from genetic deafness
Considerable progress has been made over the past decade identifying many genes associated with deafness. With the identification of these hereditary deafness genes and the proteins they encode, molecular elements of basic hearing mechanisms emerge. As functional studies of these molecular elements become available, we can put together the pieces of the puzzle and begin to reach an understandin...
متن کاملEditorial: Deafness and Goiter: Molecular Genetic Considerations
Profound deafness is one of the most striking features of certain congenital thyroid diseases. In addition, lesser defects in auditory function, albeit of uncertain incidence and severity, have been described in acquired thyroid disorders in later life. Numerous reports in the medical literature have indicated a link between the function of the thyroid gland and the development and possibly the...
متن کاملPediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.
OBJECTIVE To assess the level of a cohort of pediatric otolaryngologists' knowledge and understanding of genetics and genetic testing for deafness and hard of hearing (D/HOH). METHODS A questionnaire was designed to assess the level of knowledge and understanding of the genetic basis and genetic testing for deafness among a cohort of pediatric otolaryngologists. Three hundred questionnaires w...
متن کاملGentamicin, genetic variation and deafness in preterm children
BACKGROUND Hearing loss in children born before 32 weeks of gestation is more prevalent than in full term infants. Aminoglycoside antibiotics are routinely used to treat bacterial infections in babies on neonatal intensive care units. However, this type of medication can have harmful effects on the auditory system. In order to avoid this blood levels should be maintained in the therapeutic rang...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.8.521