نتایج جستجو برای: syndromic deafness
تعداد نتایج: 13200 فیلتر نتایج به سال:
Purpose : The aim of our work is to study the clinical, electrical, imaging and evolutionary profile epilepsy caused by mutation TBC1D24 gene in patients emphasize interest genetic counseling.
 Methodology This a qualitative observational about 3 cases, highlighting characteristics disease.
 Findings In this we report clinical history three from two families, hospitalized at Mohamed V...
Inherited hearing impairment is a highly heterogeneous group of disorders. 2 In a majority of cases (about 70%), the hearing loss is non-syndromic, that is, it is not associated with any other clinical feature. It can be transmitted following autosomal (recessive or dominant), X linked, or maternal inheritance patterns. In the nuclear genome, more than 70 loci have been reported to be involved ...
Summary Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic and keratitis, ichthyosis deafness (KID) syndrome predispose to fungal infection. The diagnosis treatment infections underlying challenging. In this review, we summarize reported cases with infection over the past 50 years. Atypical manifestations such alopecia, papules brittl...
Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose. Research suggests that in some families, m.1555A>G may cause non-syndromic deafness, without aminoglycoside exposure, as well as reduced hearing thresholds with age (age-related hearing loss). Objectives To determine whether adults with m.1555A...
The authors report here the clinical, genetic, molecular and biochemical characterisation of a large five-generation Han Chinese pedigree with maternally transmitted non-syndromic hearing loss. 17 of 35 matrilineal relatives exhibited variable severity and age at onset of sensorineural hearing loss. The average age at onset of hearing loss in matrilineal relatives of this family is 29 years, wh...
EDITOR—The most common sensory deficit in humans is hearing loss, aVecting 1 in 1000 children, with approximately half of the cases having a genetic cause. The majority of these genetic causes are non-syndromic, of which approximately 75% have an autosomal recessive mode of inheritance. So far, nearly 30 genes that cause non-syndromic recessive deafness (NSRD) have been located (for review see ...
In China, approximately 30,000 babies are born with hearing impairment each year. However, the molecular factors causing congenital hearing impairment in the Xiamen area of Fujian province have not been evaluated. To provide accurate genetic testing and counseling in the Xiamen area, we investigated the molecular etiology of non-syndromic deafness in a deaf population from Xiamen. Unrelated stu...
Deformation of the Outer Hair Cells and the Accumulation of Caveolin-2 in Connexin 26 Deficient Mice
BACKGROUND Mutations in GJB2, which encodes connexin 26 (Cx26), a cochlear gap junction protein, represent a major cause of pre-lingual, non-syndromic deafness. The degeneration of the organ of Corti observed in Cx26 mutant-associated deafness is thought to be a secondary pathology of hearing loss. Here we focused on abnormal development of the organ of Corti followed by degeneration including ...
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