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usher syndromes/ataxia
Lidhja ruhet në kujtesën e fragmenteve
9 rezultatet
A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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].
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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].
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
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.
Baza e të dhënave më e plotë e bimëve medicinale e mbështetur nga shkenca
- Punon në 55 gjuhë
- Kurime bimore të mbështetura nga shkenca
- Njohja e bimëve nga imazhi
- Harta GPS interaktive - etiketoni bimët në vendndodhje (së shpejti)
- Lexoni botime shkencore në lidhje me kërkimin tuaj
- Kërkoni bimë medicinale nga efektet e tyre
- Organizoni interesat tuaja dhe qëndroni në azhurnim me kërkimet e lajmeve, provat klinike dhe patentat
Shkruani një simptomë ose një sëmundje dhe lexoni në lidhje me barërat që mund të ndihmojnë, shtypni një barishte dhe shikoni sëmundjet dhe simptomat që përdoren kundër.
* I gjithë informacioni bazohet në kërkimin shkencor të botuar
