Zobrazeno 1 - 10
of 620
pro vyhledávání: '"non-syndromic hearing loss"'
Autor:
Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SN
Externí odkaz:
https://doaj.org/article/b98c4e75825f442c92fc2d8bd2454865
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
Abstract Background This study aims to analyze the pathogenic gene in a Chinese family with non-syndromic hearing loss and identify a novel mutation site in the TNC gene. Methods A five-generation Chinese family from Anhui Province, presenting with a
Externí odkaz:
https://doaj.org/article/eeefdfb0789d408f983b7a0e489f1bf3
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionHearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q, which plays an import
Externí odkaz:
https://doaj.org/article/c1f5e88bfb304a6fbf4f9b6f44ac82f8
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL). Methods Clinical informatio
Externí odkaz:
https://doaj.org/article/bf632ff08bc44a9b8111e25f1762ab84
Publikováno v:
Khyber Medical University Journal, Vol 15, Iss 4, Pp 218-22 (2023)
OBJECTIVES: To detect the presence of the otoferlin A1090E variant and investigate its potential correlation with severe to profound non-syndromic hereditary sensorineural hearing loss (NSHSHL) in Pakistani cochlear implant recipients. METHODS: This
Externí odkaz:
https://doaj.org/article/d14fb64264db4b7eb3ff538252718082
Publikováno v:
Journal of the Pakistan Medical Association, Vol 74, Iss 4 (2024)
Objective: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. Method: The cross-sectional study was conducted from January to November 2022at the Centre for Research in Exper
Externí odkaz:
https://doaj.org/article/10c49b8cba8144d685ca59ab39cb0fb0
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: Mutations in the MYO6 gene have been associated with both autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL), with a cumulative identification of 125 pathogenic variants. To
Externí odkaz:
https://doaj.org/article/d4d7883cb1384b3eb5502209d0c79fcd
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Abstract Background Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. Although prevalent, hearing loss i
Externí odkaz:
https://doaj.org/article/9844d87463d34aa580257b0829e3ac7c
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