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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 106"
Page 1
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS. Roman TS, et al. Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853555 Free PMC article.
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant's underlying diagnosis in 15 out of 17 (88%) children with metabolic disorders and in 5 out of 28 (18%) children with h …
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirme …
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. Wilcox SA, et al. Hum Genet. 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. Hum Genet. 2000. PMID: 10830906
Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. ...In our study of the M34T mutation, only compound heterozygotes exhibited hearing loss, suggesting …
Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital …
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Skorczyk-Werner A, Tońska K, Maciejczuk A, Nowomiejska K, Korwin M, Ołdak M, Wawrocka A, Krawczyński MR. Skorczyk-Werner A, et al. Int J Mol Sci. 2023 Dec 15;24(24):17496. doi: 10.3390/ijms242417496. Int J Mol Sci. 2023. PMID: 38139324 Free PMC article.
The molecular background of the LHON is up to 90%, genetically defined by a point mutation in mitochondrial DNA. Recently, an autosomal recessive form of LHON (LHONAR1, arLHON) has been discovered, caused by biallelic variants in the DNAJC30 gene. ...The patients pr …
The molecular background of the LHON is up to 90%, genetically defined by a point mutation in mitochondrial DNA. Recently, an autosomal …
Familial large vestibular aqueduct syndrome.
Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gebarski SS. Griffith AJ, et al. Laryngoscope. 1996 Aug;106(8):960-5. doi: 10.1097/00005537-199608000-00009. Laryngoscope. 1996. PMID: 8699909
The large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct. ...LVAS may account for a significant number of patients wit …
The large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing …