Citations for
1DFNB3, MYO15A
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation
Motavaf M, Soveizi M, Maleki M, Mahdieh N.
Int J Pediatr Otorhinolaryngol. May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6 2017
2DFNB3, MYO15A
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB.
Hum Mutat. Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21 2016
3DFNB3, MYO15A
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.
PLoS One. Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. 2014
4CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663. 2011
5MYO15A, DFNB3
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Nal N, Ahmed ZM, Erkal E, Alper OM, Lleci G, Din O, Waryah AM, Ain Q, Tasneem S, Husnain T, Chattaraj P, Riazuddin S, Boger E, Ghosh M, Kabra M, Riazuddin S, Morell RJ, Friedman TB.
Hum Mutat 28(10):1014-9. 2007
6MYO15A, DFNB3
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Baerer N, Heister AJ, Hennies HC, Nrnberg P, Baaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H.
Am J Med Genet A 143(20):2382-9. 2007
7DFNB3, DFNB30, MYO3A, DFNB34
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB.
Proc Natl Acad Sci U S A 99(11):7518-23. 2002
8DFNB3, SMS
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del 17p11.2p11.2)
Probst FJ, et al.
Genomics 55 : 348-352. 1999
9DFNB3, MYO15A
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA.
Genomics 61(3):243-58 1999
10DFNB3
Genetic mapping refines DFNB3 to 17p11.2 suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Liang Y, et al.
Am J Hum Genet 62 : 904-915. 1998
11DFNB3, MYO15A
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Wang A, et al.
Science 280 : 1447-1451. 1998
12DFNB3
Nonsyndromic recessive deafness segregating with different haplotypes in families from Bali and India mapped to the 4 cM DFNB3 region of 17p11.2. (abstr)
Liang Y, et al.
Am J Hum Genet 61 : A282. 1997
13DFNB3
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
Winata S, et al.
J Med Genet 32 : 336-343. 1995
14DFNB3
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
Friedman TB, et al.
Nat Genet 9 : 86-91. 1995