1
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Am J Hum Genet
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2000
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3.48
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2
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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
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2001
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3.42
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3
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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
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3.00
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4
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J Med Genet
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2003
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2.52
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5
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A mutation in PDS causes non-syndromic recessive deafness.
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1998
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1.79
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6
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The molecular genetics of Usher syndrome.
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Clin Genet
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2003
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1.68
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7
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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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Hum Genet
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2001
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1.66
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8
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OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
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Am J Hum Genet
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2000
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1.52
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9
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Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
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2004
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1.48
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10
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Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
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2000
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1.22
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11
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
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2001
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1.17
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12
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An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.
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1.09
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13
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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
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14
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A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
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1.02
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15
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0.96
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16
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17
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18
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A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
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0.95
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19
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A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.
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0.94
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20
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A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.
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1999
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0.92
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21
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Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.
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0.89
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22
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A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
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0.85
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23
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
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Am J Hum Genet
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0.83
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24
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A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
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0.83
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25
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Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.
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0.83
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26
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DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15.
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0.81
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27
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A novel and simple methodology to generate subtracted cDNA libraries.
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0.81
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28
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A novel zinc finger gene preferentially expressed in the retina and the organ of Corti localizes to human chromosome 12q24.3.
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0.81
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29
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Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.
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0.75
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30
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Genotype-phenotype correlations in type 1 Waardenburg syndrome.
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0.75
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31
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A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
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0.75
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