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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 76"
Page 1
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Int J Mol Sci. 2023 Apr 17;24(8):7401. doi: 10.3390/ijms24087401.
Int J Mol Sci. 2023.
PMID: 37108562
Free PMC article.
Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing loss (NSHL) cases are caused by hereditary factors. ...Sanger sequencing and MLPA identified the genetic background of 50% of these diagnosed cases, …
Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing loss (NS …
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M.
Bitarafan F, et al.
J Clin Lab Anal. 2020 Dec;34(12):e23544. doi: 10.1002/jcla.23544. Epub 2020 Aug 30.
J Clin Lab Anal. 2020.
PMID: 32864763
Free PMC article.
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and maintenance of the complex auditory system makes the genetic diagnosis of this disease challenging. Up to now, 121 differen …
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for developmen …
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Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z.
Bai X, et al.
Mol Genet Genomic Med. 2019 Aug;7(8):e808. doi: 10.1002/mgg3.808. Epub 2019 Jun 28.
Mol Genet Genomic Med. 2019.
PMID: 31250571
Free PMC article.
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases. ...
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human …
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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 …
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