Zobrazeno 1 - 10
of 39
pro vyhledávání: '"mid-frequency hearing loss"'
Autor:
At. Vlaykov, V. Stoyanov
Publikováno v:
Trakia Journal of Sciences, Vol 18, Iss Suppl. 1, Pp 89-92 (2020)
Introduction: Mid-frequency sensorineural hearing loss (MFSNHL) is an unusual audiometric finding with a debatable etiology with unclear long-term results. In general, the middle frequencies are affected first, and the process progresses slowly to in
Externí odkaz:
https://doaj.org/article/b8b0d14a5b6340d0a692c2a0e48ef688
Autor:
Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Abstract Background To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing
Externí odkaz:
https://doaj.org/article/3d0d09fe9c84481f8aa8c51778a0377f
Autor:
Yasuyuki Nishi, Kazunori Namba, Kaoru Ogawa, Sawako Masuda, Masato Fujioka, Noriko Morita, Nobuko Yamamoto, Shin Masuda, Kimitaka Kaga, Tatsuo Matsunaga, Hideki Mutai, Atsuko Nakano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ada9434258dd8ca8f40d921c570fa0
http://link.springer.com/article/10.1186/s13023-017-0708-z
http://link.springer.com/article/10.1186/s13023-017-0708-z
Autor:
Keiko Wakui, Tomoki Kosho, Akiko Ozaki, Yumiko Kobayashi, Hirooki Matsui, Hideaki Moteki, Shin-ichiro Kitajiri, Remi Motegi, Kenjiro Sugiyama, Shin-ya Nishio, Satoko Abe, Masato Teraoka, Shin-ichi Usami, Tomomi Yamaguchi, Tomohiro Kitano
Publikováno v:
Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 715 (2019)
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 715 (2019)
The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49f02b054b8589915af9bfd554ffcb0
Autor:
Satoshi Iwasaki, Shin-ichi Usami, Yutaka Takumi, Shigenari Hashimoto, Satoshi Fukuda, Norihito Takeichi, Hideaki Moteki, Shin-ya Nishio
Publikováno v:
Journal of Human Genetics. 57:587-592
信州大学博士（医学）・学位論文・平成24年7月3日授与（乙第1146号）・茂木英明
TECTA gene encodes alpha-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intrac
TECTA gene encodes alpha-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intrac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a391bed7243242c59276c8e67353e5
https://doi.org/10.1038/jhg.2012.73
https://doi.org/10.1038/jhg.2012.73
Autor:
Gabriel, Velez, Alexander G, Bassuk, Kellie A, Schaefer, Brian, Brooks, Lokesh, Gakhar, MaryAnn, Mahajan, Philip, Kahn, Stephen H, Tsang, Polly J, Ferguson, Vinit B, Mahajan
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Mutations that activate the protease calpain-5 (CAPN5) cause a nonsyndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ddd8ba34a58adf68d7a6edeea08fb883
https://pubmed.ncbi.nlm.nih.gov/29472286
https://pubmed.ncbi.nlm.nih.gov/29472286
Autor:
Zhaoxin Ma, Nan Jiang, Jing Ma, Jiongjiong Hu, Fei Liu, Duan Ma, Wenjun Xia, Shaoyang Sun, Jin Zhang, Xu Wang
Publikováno v:
Human molecular genetics. 26(16)
Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7171ab6fa324aec22202cd6149014d
https://pubmed.ncbi.nlm.nih.gov/28013291
https://pubmed.ncbi.nlm.nih.gov/28013291
Publikováno v:
Audiology and Neurotology. 20:17-25
TECTA is a causative gene of autosomal dominant (DFNA8/A12) and autosomal recessive (DFNB 21) nonsyndromic sensorineural hearing loss (NSHL). Mutations in TECTA account for 4% of all autosomal dominant NSHL cases in some populations and are thus thou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::829d5f363c5898d6ffd59def59b5d7ef
https://doi.org/10.1159/000366514
https://doi.org/10.1159/000366514
Publikováno v:
Frontiers of medicine. 10(2)
Hearing impairment is considered as the most prevalent impairment worldwide. Almost 600 million people in the world suffer from mild or moderate hearing impairment, an estimated 10% of the human population. Genetic factors play an important role in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b40798dd688a819fdb79a07e21d23c5
https://pubmed.ncbi.nlm.nih.gov/27142990
https://pubmed.ncbi.nlm.nih.gov/27142990
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