(Q55670476)

2

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Maria T B de Mello Auricchio

3

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Fernando L de Carvalho E Silva

4

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Juliana J Lopes

5

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Ronaldo S Abreu-Silva

6

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Jihane Romanos

7

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Ana C Batissoco

8

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Regina C Mingroni-Netto

European Journal of Human Genetics

9

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language of work or name

English

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publication date

January 2008

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published in

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volume

16

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issue

1

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page(s)

89-96

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cites work

From deafness genes to hearing mechanisms: harmony and counterpoint

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Non-syndromic, autosomal-recessive deafness

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Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

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High carrier frequency of the 35delG deafness mutation in European populations

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GJB2 mutations and degree of hearing loss: a multicenter study

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Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

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Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

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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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Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle

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Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

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Auditory mechanotransduction in the absence of functional myosin-XVa.

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Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population

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Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

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Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes

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Pitfalls in homozygosity mapping.

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