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Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.
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Auditory synaptopathy, auditory neuropathy, and cochlear implantation.
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Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
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Genetic Hearing Loss and Gene Therapy.
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本文引用的文献
1
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.
Hum Mol Genet. 1996 Jan;5(1):165-8. doi: 10.1093/hmg/5.1.165.
2
A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.
Hum Mol Genet. 1995 Dec;4(12):2391-4. doi: 10.1093/hmg/4.12.2391.
3
The mutational spectrum in Waardenburg syndrome.
Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131.
4
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
Hum Mol Genet. 1995 Sep;4(9):1643-8. doi: 10.1093/hmg/4.9.1643.
5
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637.
6
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.
Am J Med Genet. 1993 Jun 15;46(5):486-91. doi: 10.1002/ajmg.1320460504.
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Faster sequential genetic linkage computations.
Am J Hum Genet. 1993 Jul;53(1):252-63.
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Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.
Am J Hum Genet. 1994 Jan;54(1):79-87.
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Genetic diseases of hearing.
Curr Opin Neurol. 1994 Feb;7(1):81-7. doi: 10.1097/00019052-199402000-00015.
10
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
Nat Genet. 1994 Jan;6(1):24-8. doi: 10.1038/ng0194-24.
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