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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 119"
Page 1
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443
PURPOSE: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of th …
PURPOSE: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objective …
An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review.
Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M. Koohiyan M, et al. Int J Pediatr Otorhinolaryngol. 2019 Apr;119:136-140. doi: 10.1016/j.ijporl.2019.01.036. Epub 2019 Jan 25. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30708180 Review.
OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. ...
OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. …
Cochlear implantation in adults and pediatrics with enlarged vestibular aqueduct: a systematic review on the surgical findings and patients' performance.
Alahmadi A, Abdelsamad Y, Salamah M, Alenzi S, Badr KM, Alghamdi S, Alsanosi A. Alahmadi A, et al. Eur Arch Otorhinolaryngol. 2022 Dec;279(12):5497-5509. doi: 10.1007/s00405-022-07511-7. Epub 2022 Jun 30. Eur Arch Otorhinolaryngol. 2022. PMID: 35771280 Review.
PURPOSE: Cochlear implantation (CI) has been considered a safe and effective management option for patients with severe to profound hearing loss. Patients with enlarged vestibular aqueduct (EVA) could be challenging with some variations in surgical approaches, intra …
PURPOSE: Cochlear implantation (CI) has been considered a safe and effective management option for patients with severe to profound heari …
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.
Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S. Vanniya S P, et al. Ann Hum Genet. 2018 Mar;82(2):119-126. doi: 10.1111/ahg.12228. Epub 2017 Nov 17. Ann Hum Genet. 2018. PMID: 29148562
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. ...These results suggest a need to investigate the possibility for higher p …
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there w …