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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive"
Page 1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairme …
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically het …
Pendred syndrome.
Wémeau JL, Kopp P. Wémeau JL, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-224. doi: 10.1016/j.beem.2017.04.011. Epub 2017 May 10. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648509 Review.
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is t …
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/ …
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.
Guan J, Li J, Chen G, Shi T, Lan L, Wu X, Zhao C, Wang D, Wang H, Wang Q. Guan J, et al. Eur J Med Genet. 2021 Oct;64(10):104311. doi: 10.1016/j.ejmg.2021.104311. Epub 2021 Aug 17. Eur J Med Genet. 2021. PMID: 34416374
Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the overlapping and variable phenotypic features. ...A molecular diagnosis was rendered for 191 of 404 sporadic HL patients (47.3%) in multiple modes of inheritance, including …
Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the overlapping and variable phenotypic …
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 Free PMC article.
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. ...It is concluded that digenic inheritance does not make a significant contribution to Usher …
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss …
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW. Choi HJ, et al. Genes Genomics. 2023 Feb;45(2):145-156. doi: 10.1007/s13258-022-01349-3. Epub 2022 Dec 6. Genes Genomics. 2023. PMID: 36472766
BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. ...The compound heterozygous mutations in LOXHD1 ([p.D278Y] + [p.D1219E]) and GJB2 [p. …
BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder grou …
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Cho SH, Yun Y, Lee DH, Cha JH, Lee SM, Lee J, Suh MH, Lee JH, Oh SH, Park MK, Lee SY. Cho SH, et al. BMC Med Genomics. 2023 Dec 8;16(1):320. doi: 10.1186/s12920-023-01766-7. BMC Med Genomics. 2023. PMID: 38066485 Free PMC article.
BACKGROUND: TMC1, which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hair cells, necessary for auditory function. TMC1 variants are known to cause autosomal dominant (DFNA36) and autosomal recess …
BACKGROUND: TMC1, which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hai …
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S. Booth KT, et al. Hum Genet. 2020 Dec;139(12):1565-1574. doi: 10.1007/s00439-020-02197-5. Epub 2020 Jun 19. Hum Genet. 2020. PMID: 32562050 Free PMC article.
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic …
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and …
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss.
Lee CY, Lin PH, Chiang YT, Tsai CY, Yang SY, Chen YM, Li CH, Lu CY, Liu TC, Hsu CJ, Chen PL, Hsu JS, Wu CC. Lee CY, et al. Otolaryngol Head Neck Surg. 2023 Nov;169(5):1299-1308. doi: 10.1002/ohn.354. Epub 2023 May 1. Otolaryngol Head Neck Surg. 2023. PMID: 37125626
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. ...In addition, whole-genome sequencing and extended NGS targeting 213 deafness genes were performed in 2 multiplex families compatible with au …
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. ...In …
Genetic etiology of hearing loss in Iran.
Babanejad M, Beheshtian M, Jamshidi F, Mohseni M, Booth KT, Kahrizi K, Najmabadi H. Babanejad M, et al. Hum Genet. 2022 Apr;141(3-4):623-631. doi: 10.1007/s00439-021-02421-w. Epub 2022 Jan 20. Hum Genet. 2022. PMID: 35050400 Review.
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population. ...Comprehensive studies using different strategies from linkage analysis to next-generation sequencing, especially exome-sequencing, have achieved signifi …
Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population. ...Comprehensiv …
Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.
Xue Y, Hu X, Wang D, Li D, Li Y, Wang F, Huang M, Gu X, Xu Z, Zhou J, Wang J, Chai R, Shen J, Chen ZY, Li GL, Yang H, Li H, Zuo E, Shu Y. Xue Y, et al. Mol Ther. 2022 Jan 5;30(1):105-118. doi: 10.1016/j.ymthe.2021.06.015. Epub 2021 Jun 24. Mol Ther. 2022. PMID: 34174443 Free PMC article.
Myosin VI(MYO6) is an unconventional myosin that is vital for auditory and vestibular function. Pathogenic variants in the human MYO6 gene cause autosomal-dominant or -recessive forms of hearing loss. Effective treatments for Myo6 mutation causing h …
Myosin VI(MYO6) is an unconventional myosin that is vital for auditory and vestibular function. Pathogenic variants in the human MYO6 gene c …
588 results