Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness (Q55670476)

2

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Maria T B de Mello Auricchio

3

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Fernando L de Carvalho E Silva

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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

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Regina C Mingroni-Netto

European Journal of Human Genetics

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

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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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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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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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