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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 23"
Page 1
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 …
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F. Lin Y, et al. J Int Adv Otol. 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. J Int Adv Otol. 2019. PMID: 31347505 Free PMC article.
RESULTS: In total, 151 patients with NSHI carried pathogenic mutations in the screening chip, and the carrier rate was 23.82% (151/634) in the studied population. Of the 151 screened carriers, 65 (10.25%) patients harbored homozygous or homoplasmy mutated genes associated …
RESULTS: In total, 151 patients with NSHI carried pathogenic mutations in the screening chip, and the carrier rate was 23.82% (151/63 …
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA. Koohiyan M, et al. Audiol Neurootol. 2020;25(5):258-262. doi: 10.1159/000506500. Epub 2020 Jun 2. Audiol Neurootol. 2020. PMID: 32485727
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplished. Next-generation sequencing (NGS) was utilized to reveal the possible genetic etiology of the disease. ...
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplis …
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr. Lim LH, et al. Arch Otolaryngol Head Neck Surg. 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12925341
OBJECTIVE: To determine the genotypic and phenotypic correlations of hearing impairment (HI) in a midwestern US population related to autosomal recessive nonsyndromic hearing loss locus 1 (DFNB1). DESIGN: A retrospective review. ...The allelic p …
OBJECTIVE: To determine the genotypic and phenotypic correlations of hearing impairment (HI) in a midwestern US population related to aut …
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Batissoco AC, et al. Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. Ear Hear. 2009. PMID: 19125024
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are r …
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point …
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. ...
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, …
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S, Angelicheva D, Chandler D, Seeman P, Tournev I, Kalaydjieva L. Bouwer S, et al. Genet Test. 2007 Winter;11(4):455-8. doi: 10.1089/gte.2007.0048. Genet Test. 2007. PMID: 18294064
Mutations in the GJB2 gene are the most common cause of autosomal recessive nonsyndromic hearing loss and occur in approximately 20% of all cases of prelingual deafness. Previous studies of Roma/Gypsies in Slovakia, the Czech Republic, and Spain …
Mutations in the GJB2 gene are the most common cause of autosomal recessive nonsyndromic hearing loss and …