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DEAFNESS, AUTOSOMAL RECESSIVE 6

Known as: DFNB6, NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6, NSRD6 
 
National Institutes of Health

Papers overview

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2011
2011
Purpose Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the… Expand
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2008
2008
Loss-of function mutations in transmembrane inner ear expressed (Tmie/TMIE) gene have been shown to cause deafness in mice and… Expand
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2007
2007
Conclusion. The circling mouse (cir/cir) has phenotypes which follow the pattern of neuroepithelial defects of deafness from 10… Expand
Highly Cited
2002
Highly Cited
2002
We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene… Expand
Highly Cited
2002
Highly Cited
2002
The recessive mutation at the mouse spinner (sr) locus results in hearing loss and vestibular dysfunction due to neuroepithelial… Expand
Highly Cited
2001
Highly Cited
2001
The SLC26 gene family (solute carrier family 26) comprises five mammalian genes that encode anion transporter-related proteins… Expand
Highly Cited
1999
Highly Cited
1999
Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade… Expand
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Review
1999
Review
1999
What To Do Do suspect a genetic cause in all cases of hearing loss. Do develop a working knowledge of common types of HHI that… Expand
Highly Cited
1996
Highly Cited
1996
The recessive mode of transmission accounts for approximately 75% of inherited non syndromic deafness cases. We have previously… Expand
Highly Cited
1995
Highly Cited
1995
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing… Expand