Deafness, Autosomal Recessive 18

Known as: DEAFNESS, AUTOSOMAL RECESSIVE 18A, DFNB18, DFNB18A 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1998-2009
01219982009

Papers overview

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2009
2009
A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural… (More)
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2003
2003
Denaturing high-performance liquid chromatography (DHPLC) was used to screen 14 UK patients with Usher syndrome type 1, in order… (More)
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Review
2003
Review
2003
Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be… (More)
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Highly Cited
2002
Highly Cited
2002
Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The… (More)
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2002
2002
We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness… (More)
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and… (More)
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… (More)
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1999
1999
We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225… (More)
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1998
1998
Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to… (More)
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