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Deafness, Autosomal Dominant 11

Known as: DFNA11 
 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal dominant inheritanceMYO7A, ASP218ASN

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11)
We ascertained a large Italian family with an autosomal dominant form of non-syndromic sensorineural hearing loss with vestibular… Expand
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2006
2006
Cochleovestibular and ocular features in a Dutch DFNA11 family.
OBJECTIVES To report hearing impairment and vestibular and ocular features in a Dutch DFNA11 family and to compare these results… Expand
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2004
2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non… Expand
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2004
2004
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).
Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We… Expand
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2002
2002
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
OBJECTIVES/HYPOTHESIS To characterize the audiovestibular phenotype of DFNA11, an autosomal dominant nonsyndromic hearing… Expand
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2002
2002
Searching for evidence of DFNB2.
Deafness is the most common form of sensory impairment in humans, affecting about 1 in 1,000 births in the United States. Of… Expand
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Highly Cited
2000
Highly Cited
2000
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.
The zebrafish (Danio rerio) possesses two mechanosensory organs believed to be homologous to each other: the inner ear, which is… Expand
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2000
2000
Sensorineural hearing impairment non-syndromic, dominant DFNA11.
 
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1997
1997
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.
We mapped expressed tagged sequences (ESTs) corresponding to two human dynein heavy chain genes: beta heavy chain of the outer… Expand
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1996
1996
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.
Hereditary hearing loss is divided into two groups, syndromic and non-syndromic, the latter being more common and highly… Expand
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