Nonsyndromic Deafness

Known as: Nonsyndromic Hearing Loss, Isolated Deafness, Nonsyndromic Hearing Impairment 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1975-2017
010203019752017

Papers overview

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Highly Cited
2010
Highly Cited
2010
Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome… (More)
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2008
2008
Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We… (More)
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Highly Cited
2006
Highly Cited
2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It… (More)
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Highly Cited
2006
Highly Cited
2006
The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic… (More)
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Highly Cited
2004
Highly Cited
2004
We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic… (More)
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2004
2004
We report here the biochemical characterization of the deafness-associated mitochondrial tRNA(Ser(UCN)) T7511C mutation, in… (More)
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Highly Cited
2002
Highly Cited
2002
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on… (More)
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