Hereditary hearing loss: from human mutation to mechanism
DR Lenz, KB Avraham - Hearing research, 2011 - Elsevier
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of
genes encoding a large variety of proteins. Mutations in these genes have been discovered …
genes encoding a large variety of proteins. Mutations in these genes have been discovered …
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss
In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus
associated with recessively inherited, prelingual, profound sensorineural hearing …
associated with recessively inherited, prelingual, profound sensorineural hearing …
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
S Riazuddin, SN Khan, ZM Ahmed, M Ghosh… - The American Journal of …, 2006 - cell.com
In seven families, six different mutant alleles of TRIOBP on chromosome 22q13 cosegregate
with autosomal recessive nonsyndromic deafness. These alleles include four nonsense …
with autosomal recessive nonsyndromic deafness. These alleles include four nonsense …
Molecular diagnosis of hereditary hearing impairment
H Kremer, LH Hoefsloot - ADVANCES IN …, 2002 - books.google.com
Hearing impairment is a severe and prevalent handicap in our complex society. About 1 in
1,000 children is already severely affected in the prelingual period [1] and the prevalence …
1,000 children is already severely affected in the prelingual period [1] and the prevalence …
[PDF][PDF] Candidate gene studies in psychiatric illness
HM Knight - 2009 - core.ac.uk
Schizophrenia, bipolar disorder and major depression are common, heritable
neuropsychiatric conditions and yet the source of the inherited risk remains largely …
neuropsychiatric conditions and yet the source of the inherited risk remains largely …