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Year Number of Results
1974 1
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2010 2
2011 1
2014 3
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Page 1
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Jiang Y, Wu L, Huang S, Li P, Gao B, Yuan Y, Zhang S, Yu G, Gao Y, Wu H, Dai P. Jiang Y, et al. Biosci Rep. 2021 Jun 25;41(6):BSR20203740. doi: 10.1042/BSR20203740. Biosci Rep. 2021. PMID: 33860785 Free PMC article.
X-linked deafness-2 (DFNX2) is cochlear incomplete partition type III (IP-III), one of inner ear malformations characterized by an abnormally wide opening in the bone separating the basal turn of the cochlea from the internal auditory canal, fixation of the s …
X-linked deafness-2 (DFNX2) is cochlear incomplete partition type III (IP-III), one of inner ear malformations characte …
Genetic causes of hearing loss.
Cremers FP. Cremers FP. Curr Opin Neurol. 1998 Feb;11(1):11-6. doi: 10.1097/00019052-199802000-00003. Curr Opin Neurol. 1998. PMID: 9484611 Review.
Likewise, linkage studies in Pendred syndrome and Usher syndrome type 1D suggest that allelic mutations can cause syndromic and non-syndromic forms of deafness. In patients with X-linked deafness type 3, a hotspot for deletions was found 900 kb proximal to th …
Likewise, linkage studies in Pendred syndrome and Usher syndrome type 1D suggest that allelic mutations can cause syndromic and non-syndromi …
Role of skeletal muscle in ear development.
Rot I, Baguma-Nibasheka M, Costain WJ, Hong P, Tafra R, Mardesic-Brakus S, Mrduljas-Djujic N, Saraga-Babic M, Kablar B. Rot I, et al. Histol Histopathol. 2017 Oct;32(10):987-1000. doi: 10.14670/HH-11-886. Epub 2017 Mar 8. Histol Histopathol. 2017. PMID: 28271491 Review.
Mutations in one of our candidate genes, Smpx, have been reported as the cause of X-linked deafness in humans. Our current study suggests an epigenetic role that mechanical, and potentially other, stimuli originating from muscle, play in organogenesis, and of …
Mutations in one of our candidate genes, Smpx, have been reported as the cause of X-linked deafness in humans. Our curr …
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.
Chen Y, Qiu J, Wu Y, Jia H, Jiang Y, Jiang M, Wang Z, Sheng HB, Hu L, Zhang Z, Wang Z, Li Y, Huang Z, Wu H. Chen Y, et al. Orphanet J Rare Dis. 2022 Feb 21;17(1):65. doi: 10.1186/s13023-022-02235-7. Orphanet J Rare Dis. 2022. PMID: 35189936 Free PMC article.
BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. ...
BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type II …
Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
Lv Y, Gu J, Qiu H, Li H, Zhang Z, Yin S, Mao Y, Kong L, Liang B, Jiang H, Liu C. Lv Y, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e967. doi: 10.1002/mgg3.967. Epub 2019 Sep 3. Mol Genet Genomic Med. 2019. PMID: 31478598 Free PMC article.
BACKGROUND: X-linked deafness-4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post-lingual onset. ...
BACKGROUND: X-linked deafness-4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing …
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N. Stanton SG, et al. Am J Audiol. 2014 Jun;23(2):190-200. doi: 10.1044/2014_AJA-13-0040. Am J Audiol. 2014. PMID: 24687041
PURPOSE: To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mutations in 2 X-linked "deafness" genes (DFNX). METHOD: Audiological, medical, and family histories were collected and family members interviewed to com …
PURPOSE: To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mutations in 2 X-linked …
Conductive hearing loss caused by third-window lesions of the inner ear.
Merchant SN, Rosowski JJ. Merchant SN, et al. Otol Neurotol. 2008 Apr;29(3):282-9. doi: 10.1097/mao.0b013e318161ab24. Otol Neurotol. 2008. PMID: 18223508 Free PMC article. Review.
Anatomically discrete lesions may be classified by location: semicircular canals (superior, lateral, or posterior canal dehiscence), bony vestibule (large vestibular aqueduct syndrome, other inner ear malformations), or the cochlea (carotid-cochlear dehiscence, X-linked …
Anatomically discrete lesions may be classified by location: semicircular canals (superior, lateral, or posterior canal dehiscence), bony ve …
25 results