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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 16"
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GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Beca …
Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear …
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F. Koohiyan M, et al. Ann Hum Genet. 2020 Mar;84(2):107-113. doi: 10.1111/ahg.12354. Epub 2019 Sep 11. Ann Hum Genet. 2020. PMID: 31512227 Review.
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. ...In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In to …
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in …
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. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among differ …
OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. …
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA. Koohiyan M, et al. Int J Pediatr Otorhinolaryngol. 2018 Apr;107:121-126. doi: 10.1016/j.ijporl.2018.01.012. Epub 2018 Jan 31. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29501291
On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive non-syndromic HL (ARNSHL) is the most prevalent form of HL. ...Previous studies have estimated the average frequency of GJB2 mutations to …
On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive …
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linked genes for 3% of the solved cases. Syndromic/nonsyndromic hearing loss mimic genes were affected in 27% of the genetic …
Regarding genetic diagnoses, autosomal-dominant genes accounted for 37%, autosomal-recessive genes for 60%, and X-linke …
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiograms were evaluated in the GJB2 mutants. ...The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound …
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiogra …
Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X. Xiong Y, et al. Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019165. Genet Mol Res. 2017. PMID: 28198501 Free article.
Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal recessive nonsyndromic hearing loss. Its 235delC and 30-35delG polymorphisms are reported to be associated with r …
Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal …
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH. Xiao ZA, et al. Chin Med J (Engl). 2004 Dec;117(12):1797-801. Chin Med J (Engl). 2004. PMID: 15603707
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form. ...METHODS: Using PCR amplifying the entire coding region of GJB2 gene and direct DNA sequenci …
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare …