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Nonsyndromic hearing impairment: unparalleled heterogeneity.

作者信息

Van Camp G, Willems P J, Smith R J

机构信息

Department of Medical Genetics, University of Antwerp, Belgium.

出版信息

Am J Hum Genet. 1997 Apr;60(4):758-64.

PMID:9106521
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1712474/
Abstract
摘要

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Nonsyndromic hearing impairment: unparalleled heterogeneity.非综合征性听力损失:无与伦比的异质性。
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2
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.一种与Xp21.2相关的新型非综合征性X连锁感音神经性听力障碍。
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3
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.
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4
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.在中国一个家系中,于5q31.1 - 32区域鉴定出一个常染色体显性非综合征性听力损失的新基因座。
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Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.瑞典一个家族中非综合征性遗传性听力损失的双基因遗传证据。
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A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD.
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DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.DFNB39是一种隐性遗传性感音神经性听力损失,定位于7号染色体q11.22-q21.12区域。
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本文引用的文献

1
A note on deaf mutism.关于聋哑症的笔记。
Ann Hum Genet. 1959 Dec;23:357-66. doi: 10.1111/j.1469-1809.1959.tb01479.x.
2
Sex-linked deafness of a possibly new type.一种可能新型的性连锁耳聋
Acta Genet Stat Med. 1960;10:54-62. doi: 10.1159/000151118.
3
Hereditary deaf mutism, with particular reference to Northern Ireland.遗传性聋哑,特别提及北爱尔兰地区。
Ann Hum Genet. 1956 Feb;20(3):177-231. doi: 10.1111/j.1469-1809.1956.tb01367.x.
4
Mapping of DFN2 to Xq22.DFN2基因定位于Xq22。
Hum Mol Genet. 1996 Dec;5(12):2055-60. doi: 10.1093/hmg/5.12.2055.
5
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.一个非综合征性感音神经性耳聋的新基因座(DFN6)定位于X染色体p22区域。
Hum Mol Genet. 1996 Sep;5(9):1383-7. doi: 10.1093/hmg/5.9.1383.
6
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.在X连锁3型耳聋(DFN3)患者中,于DFN3基因POU3F4近端900 kb处鉴定出一个微缺失热点。
Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229.
7
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.在一个挪威大家庭中鉴定出常染色体显性非综合征性听力损失(DFNA7)的一个新基因座。
Hum Mol Genet. 1996 Aug;5(8):1187-91. doi: 10.1093/hmg/5.8.1187.
8
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.人类USH1B/小鼠震颤蛋白-1:光感受器细胞中肌球蛋白VIIA的有无所解释的视网膜表型差异。
Hum Mol Genet. 1996 Aug;5(8):1171-8. doi: 10.1093/hmg/5.8.1171.
9
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.一种新的X连锁基因DDP,在患有耳聋(DFN-1)、肌张力障碍、智力缺陷和失明的家族中出现突变。
Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177.
10
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.一种非综合征性常染色体显性进行性语后感觉神经性听力损失基因定位于14号染色体q12 - 13区域。
Hum Mol Genet. 1996 Jul;5(7):1047-50. doi: 10.1093/hmg/5.7.1047.