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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 4"
Page 1
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S. Zheng K, et al. BMC Med Genomics. 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. BMC Med Genomics. 2024. PMID: 38167320 Free PMC article.
This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL). ...An in vitro minigene assay confirmed the above predictions. CONCLUSIONS: We identified a compound heterozygous sp …
This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearin …
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X. He X, et al. Int J Pediatr Otorhinolaryngol. 2017 Apr;95:104-108. doi: 10.1016/j.ijporl.2017.02.013. Epub 2017 Feb 14. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28576516
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct syndrome. ...Protein alignment indicated high evolutionary conservation of the p.R581 residue, and this …
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss …
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. Kim SY, et al. J Gene Med. 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. J Gene Med. 2016. PMID: 27886419 Free PMC article.
METHODS: We recruited 42 probands from subjects aged less than 15 years with a moderate degree of nonsyndromic autosomal-recessive or sporadic sensorineural hearing loss (SNHL) in at least one side. Molecular genetic testing, including targeted exome sequencing (TES …
METHODS: We recruited 42 probands from subjects aged less than 15 years with a moderate degree of nonsyndromic autosomal-recessive …
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X. Liang Y, et al. Int J Pediatr Otorhinolaryngol. 2018 Apr;107:97-100. doi: 10.1016/j.ijporl.2018.01.037. Epub 2018 Jan 31. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29501320
Protein alignment indicated high evolutionary conservation of the p.E704 residue, and this mutation was predicted by online tools to be damaging and deleterious. CONCLUSION: This study demonstrates that the novel mutation c.2110 G > C (p.Glu704Gln) in compound heterozyg …
Protein alignment indicated high evolutionary conservation of the p.E704 residue, and this mutation was predicted by online tools to …
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.
We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. ...This study validates the DFNB23 designation and supports the hypothesis that missense …
We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, …
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. Shearer AE, et al. Laryngoscope. 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. Laryngoscope. 2009. PMID: 19274735 Free PMC article.
OBJECTIVES: To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families. ...Like other mutations located in the myosin tail homo …
OBJECTIVES: To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic …
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.
We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere …
We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndro …