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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 72"
Page 1
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K. Kamiyoshi N, et al. Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-1449. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8. Clin J Am Soc Nephrol. 2016. PMID: 27281700 Free PMC article.
BACKGROUND AND OBJECTIVES: Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen …
BACKGROUND AND OBJECTIVES: Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, …
Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population.
Gommeren H, Bosmans J, Moyaert J, Mertens G, Cras P, Engelborghs S, Van Ombergen A, Gilles A, Fransen E, van de Berg R, JanssensdeVarebeke S, Van Rompaey V. Gommeren H, et al. Ear Hear. 2023 Jul-Aug 01;44(4):697-709. doi: 10.1097/AUD.0000000000001315. Epub 2022 Dec 20. Ear Hear. 2023. PMID: 36607747 Free PMC article.
BACKGROUND: DeaFNess Autosomal dominant 9 (DFNA9) is a hereditary disorder known to affect both hearing and vestibular function in its carriers. ...Recent studies have identified the impact of hearing loss and vestibular dysfunction on cognitive …
BACKGROUND: DeaFNess Autosomal dominant 9 (DFNA9) is a hereditary disorder known to affect both hearing and vestibular …
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW. Garretsen TJ, et al. Ann N Y Acad Sci. 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. Ann N Y Acad Sci. 1991. PMID: 1952595
In 30 fully investigated family pedigrees in which there were at least two generations of people suffering from osteogenesis imperfecta type I (McKusick no. 16620), the data on 144 random offspring could be used for segregation analysis. The major characteristics, blue sclerae, f …
In 30 fully investigated family pedigrees in which there were at least two generations of people suffering from osteogenesis imperfecta type …
Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.
Swinnen FK, Casselman JW, De Leenheer EM, Cremers CW, Dhooge IJ. Swinnen FK, et al. Laryngoscope. 2013 Aug;123(8):1988-95. doi: 10.1002/lary.23963. Epub 2013 Feb 12. Laryngoscope. 2013. PMID: 23404366
Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. ...The more severe the hearing loss, the more affected temporal bone structures in OI....
Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. ...The more severe the …
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a larg …
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing …
Alport syndrome. Molecular genetic aspects.
Hertz JM. Hertz JM. Dan Med Bull. 2009 Aug;56(3):105-52. Dan Med Bull. 2009. PMID: 19728970
Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied by progressive high-tone sensorineural hearing loss and ocular changes in form of macular flecks and lenticonus. AS is a genet …
Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied …
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF, Scacheri C, White L, Scacheri PC, Bale S. Bartels CF, et al. Genet Test Mol Biomarkers. 2010 Dec;14(6):881-91. doi: 10.1089/gtmb.2010.0101. Genet Test Mol Biomarkers. 2010. PMID: 21158681 Free PMC article.
CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. ...Of the 203 mutations, only 9 were missense, with 107 nonsense, 69 frameshift, and 15 splice-site mutations lik …
CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helic …
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH. Xiao ZA, et al. Chin Med J (Engl). 2004 Dec;117(12):1797-801. Chin Med J (Engl). 2004. PMID: 15603707
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form. ...CONCLUSIONS: The general mutation rate of GJB2 is 12.2% (16/131) and the 235d …
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in so …
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P. Donaudy F, et al. Am J Hum Genet. 2003 Jun;72(6):1571-7. doi: 10.1086/375654. Epub 2003 May 6. Am J Hum Genet. 2003. PMID: 12736868 Free PMC article.
Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mice. Here, we report the identification of a nonsense mutation, of a trinucleotide insertion leading to an addition of an amino acid, and of s …
Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mic …