منابع مشابه
Learning And Improvement In Hereditary Diseases
Thank you for inviting me to give this year’s Desmond Whyte lecture and for the President’s very kind introduction. It is a great honour to give this lecture, and particularly in Altnagelvin hospital where I spent many Wednesdays in outpatients seeing families with genetic disorders, and regularly availed of the excellent radiology service that Desmond had set up some years ago. The title of th...
متن کاملThe effect of cochlear implantation on the improvement of hearing performance in children suffering from profound hereditary and Non-hereditary hearing loss
Introduction: Hearing is one of the dominant senses of humans. In fact, human beings learn the language which is spoken in their environment and, then, develop the capability to speak. Cochlear implantation is introduced worldwide as a method for the treatment of the severe-to-profound sensory-neural hearing loss. Therefore, the present study aims to investigate the effect of cochlear implantat...
متن کاملImprovement in vision: a new goal for treatment of hereditary retinal degenerations
Introduction: Inherited retinal degenerations (IRDs) have long been considered untreatable and incurable. Recently, one form of early-onset autosomal recessive IRD, Leber congenital amaurosis (LCA) caused by mutations in RPE65 (retinal pigment epithelium-specific protein 65 kDa) gene, has responded with some improvement of vision to gene augmentation therapy and oral retinoid administration. Th...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کاملhereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
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ژورنال
عنوان ژورنال: The Lancet
سال: 1873
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(02)26228-5