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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 113"
Page 1
Familial auditory neuropathy.
Wang Q, Gu R, Han D, Yang W. Wang Q, et al. Laryngoscope. 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. Laryngoscope. 2003. PMID: 12972945
Some subjects received vestibular caloric testing, computed tomography scan of the temporal bone, and electrocardiography to exclude other possible neuropathic disorders. RESULTS: In most affected patients, hearing loss of various degrees and speech discrimination d …
Some subjects received vestibular caloric testing, computed tomography scan of the temporal bone, and electrocardiography to exclude other p …
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S. Ghasemnejad T, et al. Int J Pediatr Otorhinolaryngol. 2017 Jun;97:113-126. doi: 10.1016/j.ijporl.2017.04.007. Epub 2017 Apr 6. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28483220 Review.
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. ...In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) …
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) case …
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A. Salime S, et al. Int J Pediatr Otorhinolaryngol. 2017 Oct;101:25-29. doi: 10.1016/j.ijporl.2017.07.024. Epub 2017 Jul 21. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28964305
OBJECTIVES: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. ...METHODS: After excluding mutations previously reported in Moroccan deaf patients, whole exome sequencin …
OBJECTIVES: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent hu …
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. Li T, et al. Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8. Gene. 2019. PMID: 30974196 Review.
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. ...Our findings predicted the potential function of this gene in …
Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensor …
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. Ebermann I, et al. Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. Hum Mutat. 2007. PMID: 17301963
We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration. Detailed clinical investigation of the six siblings revealed combined severe cone-rod dystrop …
We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing …
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.
Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K. Hayashi C, et al. Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):211-4. doi: 10.1016/j.ijporl.2010.11.001. Epub 2010 Nov 26. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21112098
OBJECTIVE: GJB2 (gap junction protein, beta 2, 26kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of autosomal recessive non-syndromic deafness. Point and deletion mutations in GJB2 are the most frequent cause of non-syndromic …
OBJECTIVE: GJB2 (gap junction protein, beta 2, 26kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of …
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct.
Liu L, Yang B. Liu L, et al. Acta Neurol Belg. 2013 Jun;113(2):157-60. doi: 10.1007/s13760-012-0138-6. Epub 2012 Oct 2. Acta Neurol Belg. 2013. PMID: 23055113
The ABR test was performed on 175 subjects with severe and profound hearing loss from July 2008 to August 2011. Patients were submitted to high-resolution computed tomography scans for the temporal bone of the inner ear, and were diagnosed with EVA (EVA group; n = 2 …
The ABR test was performed on 175 subjects with severe and profound hearing loss from July 2008 to August 2011. Patients were …