Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness.
|
27375115 |
2016 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
|
26226137 |
2016 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss.
|
25792667 |
2015 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
|
26308726 |
2015 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
|
23865914 |
2013 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
|
23208854 |
2013 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
We estimate the prevalence of homozygous MYO15A mutations in autosomal recessive nonsyndromic deafness in Turkey as 0.062 (95% confidence interval is 0.020-0.105).
|
20642360 |
2010 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
BEFREE |
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse.
|
19309289 |
2009 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse.
|
19309289 |
2009 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice.
|
17546645 |
2007 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
|
15590698 |
2005 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
|
15654330 |
2005 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
|
10915760 |
2000 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
BEFREE |
We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for the human nonsyndromic deafness DFNB3.
|
10049592 |
1999 |
Nonsyndromic Deafness
|
0.480 |
Biomarker
|
disease |
CLINGEN |
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.
|
9603735 |
1998 |
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
|
9603736 |
1998 |
Nonsyndromic Deafness
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Nonsyndromic Deafness
|
0.480 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|