Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.

Literature DB >> 11483641

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.

M J Houseman, A P Jackson, L I Al-Gazali, R A Badin, E Roberts, R F Mueller.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2001 PMID： 11483641 PMCID： PMC1734926 DOI： 10.1136/jmg.38.8.e25

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

Keyword Cloud
Cited

× No keyword cloud information.

9 in total

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

Authors: R Varga; M R Avenarius; P M Kelley; B J Keats; C I Berlin; L J Hood; T G Morlet; S M Brashears; A Starr; E S Cohn; R J H Smith; W J Kimberling
Journal: J Med Genet Date: 2005-12-21 Impact factor: 6.318

2. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

Authors: Ellen A Tsai; Micah A Berman; Laura K Conlin; Heidi L Rehm; Lauren J Francey; Matthew A Deardorff; Jenelle Holst; Maninder Kaur; Emily Gallant; Dinah M Clark; Joseph T Glessner; Shane T Jensen; Struan F A Grant; Peter J Gruber; Hakon Hakonarson; Nancy B Spinner; Ian D Krantz
Journal: Am J Med Genet A Date: 2013-07-29 Impact factor: 2.802

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.

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

2. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

3. A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.

4. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

5. Parallel evolution of auditory genes for echolocation in bats and toothed whales.

6. Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

Review 7. Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

8. Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

9. Molecular approach of auditory neuropathy.