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Nonsyndromic Deafness

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. With 46 genes implicated in… Expand
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Highly Cited
2009
Highly Cited
2009
BackgroundEvery year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing… Expand
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Highly Cited
2009
Highly Cited
2009
Deafness is the most common form of sensory impairment in humans and is frequently caused by single gene mutations. Interestingly… Expand
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Highly Cited
2009
Highly Cited
2009
Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4… Expand
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Highly Cited
2008
Highly Cited
2008
BackgroundMutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing… Expand
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Highly Cited
2007
Highly Cited
2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
1999
Highly Cited
1999
CONTEXT Mutations in the GJB2 gene are the most common known cause of inherited congenital severe-to-profound deafness. The… Expand
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