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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 40"
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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Hum Genet. 2024 Mar;143(3):311-329. doi: 10.1007/s00439-024-02649-2. Epub 2024 Mar 9. Hum Genet. 2024. PMID: 38459354 Free PMC article.
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. ...Exome sequencing was performed on DNA of four f …
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of …
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS. Song JS, et al. Ann Lab Med. 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. Ann Lab Med. 2020. PMID: 31858762 Free PMC article.
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). ...This variant affects an amino acid residue located …
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal …
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, …