usher syndromes/атаксија

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A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers.

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Of two brothers born of Sephardic first cousin parents one presented with congenital neural deafness, nyctalopia, visual field loss, flat ERG, unintelligible speech and a shuffling gait, and the other with severe ataxia, severe decreased visual acuity, mild field loss, decreased ERG, dysarthric

[Usher syndrome: a case report].

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A 60-year-old Jewish woman with consangineous parents had a history of severe sensorineural hearing loss since the age of 2 years. Hearing loss had not progressed since childhood, but her visual impairment due to pigmentary retinopathy, known since childhood, had worsened 15 years ago. The diagnosis

Targeted exon sequencing in Usher syndrome type I.

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OBJECTIVE Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular ataxia. This syndrome is currently thought to be associated with at least six genes, which are encoded by over 180 exons. Here, we present the use of state-of-the-art

[Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].

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Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

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Usher syndrome type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound congenital deafness, and vestibular ataxia. It can be caused by mutations in at least six different loci (USH1A-1F). The gene encoding human myosin VIIA (MYO7A) is the USH1B locus. In this

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

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BACKGROUND Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and

Usher syndrome: an otoneurologic study.

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Usher syndrome is an autosomal recessive disorder characterized by severe hearing loss or deafness and retinitis pigmentosa. Eleven families with 25 affected members were studied. The test battery included genetic studies, clinical examination, audiological, ophthalmologic, and otoneurological

Vestibular and auditory disorders.

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Benign positional vertigo, the most common cause of vertigo, can now be cured with a simple bedside maneuver. A series of recent publications have clarified the pathophysiology of benign positional vertigo and documented the efficacy of particle repositioning maneuvers for treating the condition.

The modular nature of genetic diseases.

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Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically heterogeneous diseases such as Fanconi anemia, Bardet-Biedl or Usher syndrome, where the various genes work together in a single biological module.

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