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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 29"
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Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K, Abbassi M, Nmer S, Laamarti H, ElAlami MN, Ouldim K, Bouguenouch L, Ridal M. El Fizazi K, et al. Audiol Neurootol. 2024;29(3):216-223. doi: 10.1159/000535346. Epub 2024 Jan 22. Audiol Neurootol. 2024. PMID: 38253033
INTRODUCTION: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investig …
INTRODUCTION: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal re …
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for pre …
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolv …
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F. Atik T, et al. PLoS One. 2015 Nov 11;10(11):e0142154. doi: 10.1371/journal.pone.0142154. eCollection 2015. PLoS One. 2015. PMID: 26561413 Free PMC article.
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort i …
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investig …
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H. Davarnia B, et al. Int J Pediatr Otorhinolaryngol. 2012 Feb;76(2):268-71. doi: 10.1016/j.ijporl.2011.11.019. Epub 2011 Dec 14. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22172221
In spite of this, mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries and are largely dependent on ethnic groups. The purpose of our study was to characterize the type and prevalence of GJB2 mu …
In spite of this, mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss i …