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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 80"
Page 1
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study. ...Clinical, genetic, laboratory, and pathology data were collected. OBSERVATIONS: A …
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (A …
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, Ito T, Sugahara K, Usami SI. Yasukawa R, et al. Genes (Basel). 2019 Sep 24;10(10):744. doi: 10.3390/genes10100744. Genes (Basel). 2019. PMID: 31554319 Free PMC article.
TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. ...In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural h …
TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in var …
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM. Arnett J, et al. Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Arch Otolaryngol Head Neck Surg. 2011. PMID: 21242547 Free PMC article.
OBJECTIVE: To identify the genetic etiology in a family with autosomal dominant progressive sensorineural hearing loss. DESIGN: Prospective molecular genetic research study. ...RESULTS: Affected individuals in this family presented with autosomal …
OBJECTIVE: To identify the genetic etiology in a family with autosomal dominant progressive sensorineural hearing lo …
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Hogewind BF, Pennings RJ, Hol FA, Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Hogewind BF, et al. Mol Vis. 2010 Jan 12;16:26-35. Mol Vis. 2010. PMID: 20069065 Free PMC article.
PURPOSE: To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. ...CONCLUSIONS: This study describes the phenotype o …
PURPOSE: To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy a …
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC. Arweiler-Harbeck D, et al. Otol Neurotol. 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. Otol Neurotol. 2011. PMID: 21436747
OBJECTIVE: Meniere's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and redu …
OBJECTIVE: Meniere's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, …
Hereditary Transthyretin Amyloidosis in Eight Chinese Families.
Meng LC, Lyu H, Zhang W, Liu J, Wang ZX, Yuan Y. Meng LC, et al. Chin Med J (Engl). 2015 Nov 5;128(21):2902-5. doi: 10.4103/0366-6999.168048. Chin Med J (Engl). 2015. PMID: 26521788 Free PMC article.
BACKGROUND: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. ...The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy …
BACKGROUND: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, …
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. Azaiez H, et al. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25816005 Free PMC article.
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. ...Here we report a family segregating post-lingual progressive autosomal dominant non-syndromic hearing loss (ADNSHL). After first excluding plausible varian …
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. ...Here we report a family segregating post-li …
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B. Flex E, et al. J Med Genet. 2003 Apr;40(4):278-81. doi: 10.1136/jmg.40.4.278. J Med Genet. 2003. PMID: 12676899 Free PMC article.
Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal …
Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inher …
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
Stratakis CA, Lin JP, Rennert OM. Stratakis CA, et al. Am J Med Genet. 1998 Sep 23;79(3):209-14. Am J Med Genet. 1998. PMID: 9788564
We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis. Fifteen a …
We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenoty …
Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
Tian T, Lu Y, Yao J, Cao X, Wei Q, Li Q. Tian T, et al. Genes Genet Syst. 2018 Dec 22;93(5):171-179. doi: 10.1266/ggs.18-00006. Epub 2018 Aug 31. Genes Genet Syst. 2018. PMID: 30175721 Free article.
Autosomal dominant non-syndromic hearing loss (ADNSHL) is characterized by postlingual progressive onset. ...WES has thus been shown to be a useful molecular diagnostic tool in screening uncommon gene mutations associated with hereditary hearing …
Autosomal dominant non-syndromic hearing loss (ADNSHL) is characterized by postlingual progressive onset. ...WES …
24 results