نتایج جستجو برای: hereditary deafness

تعداد نتایج: 91403  

2016
E. W. O'G. Kirwan

cases. (b) The Wassermann reaction negative, m 318 cases, but of these 149 gave a history of venereal diseases, and 31 cases showed evidence of hereditary syphilis, with such lesions as Hutchinson's peg-top-shaped teeth, flat noses, ozsena, linear scars at the angles the mouth, nodes on the long bones, swelling of the joints, enlarged lym~ phatic glands, and deafness. 169 cases gave a history o...

2015
Ya-Jie Lu Jun Yao Qin-Jun Wei Guang-Qian Xing Xin Cao

Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA statement to evaluate the diagnostic value of SLC26A4 mutant alleles and their correlations with multiethnic hearing phenotype...

2015
Tomohito Higashi Tatsuya Katsuno Shin-ichiro Kitajiri Mikio Furuse

Tricellular tight junctions seal the extracellular spaces of tricellular contacts, where the vertices of three epithelial cells meet, and are required for the establishment of a strong barrier function of the epithelial cellular sheet. Angulins and tricellulin are known as specific protein components of tricellular tight junctions, where angulins recruit tricellulin. Mutations in the genes enco...

2017
Liangpu Xu Yan Wang Hailong Huang Na Lin Deqin He Min Zhang Meihuan Chen Yuan Lin

To analyze the mutations of deaf-related gene among pregnant women in Fujian province of South China and provide a prenatal diagnosis system for their families. 2000 peripheral blood of pregnant women in Fujian province of South China was collected, and the genetic mutations of four common deafness genes (GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3) were detected by using hereditary deafness ...

2014
Dragan DANKUC Darja ŠEGAN zoran KOMAzEC Ljiljana VLAŠKI Slobodanka LEMAJIĆ Ivana SOKOLOVAC

Introduction. The first cochlear implant surgery was performed at the Center for Cochlear Implantation of the Department of Ear, Nose and Throat Diseases, Clinical Center of Vojvodina in 2002 after long preparations and that was the first successful cochlear implantation in Serbia. Material and Methods. Over the period from November 2002 to November 2013, 99 patients underwent surgical procedur...

Journal: :Journal of medical genetics 2004
Q J Wang C Y Lu N Li S Q Rao Y B Shi D Y Han X Li J Y Cao L M Yu Q Z Li M X Guan W Y Yang Y Shen

H earing impairment is a common condition responsible for communication disorders affecting one in 1000 newborns. 2 A national poll by the China Association of the Handicapped in 1987 showed that 20.57 million people in the country were affected by auditory or speech disorders, accounting for 34% of the 60 million disabled or 1.58% of the total Chinese population (1.3 billion) (www.cdpf.org.cn)...

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