148 related articles for article (PubMed ID: 9529344)
1. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Liang Y; Wang A; Probst FJ; Arhya IN; Barber TD; Chen KS; Deshmukh D; Dolan DF; Hinnant JT; Carter LE; Jain PK; Lalwani AK; Li XC; Lupski JR; Moeljopawiro S; Morell R; Negrini C; Wilcox ER; Winata S; Camper SA; Friedman TB
Am J Hum Genet; 1998 Apr; 62(4):904-15. PubMed ID: 9529344
[TBL] [Abstract][Full Text] [Related]
2. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.
Friedman TB; Liang Y; Weber JL; Hinnant JT; Barber TD; Winata S; Arhya IN; Asher JH
Nat Genet; 1995 Jan; 9(1):86-91. PubMed ID: 7704031
[TBL] [Abstract][Full Text] [Related]
3. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
Winata S; Arhya IN; Moeljopawiro S; Hinnant JT; Liang Y; Friedman TB; Asher JH
J Med Genet; 1995 May; 32(5):336-43. PubMed ID: 7616538
[TBL] [Abstract][Full Text] [Related]
4. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Wang A; Liang Y; Fridell RA; Probst FJ; Wilcox ER; Touchman JW; Morton CC; Morell RJ; Noben-Trauth K; Camper SA; Friedman TB
Science; 1998 May; 280(5368):1447-51. PubMed ID: 9603736
[TBL] [Abstract][Full Text] [Related]
5. Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Riazuddin S; Castelein CM; Ahmed ZM; Lalwani AK; Mastroianni MA; Naz S; Smith TN; Liburd NA; Friedman TB; Griffith AJ; Riazuddin S; Wilcox ER
Nat Genet; 2000 Dec; 26(4):431-4. PubMed ID: 11101839
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Liburd N; Ghosh M; Riazuddin S; Naz S; Khan S; Ahmed Z; Riazuddin S; Liang Y; Menon PS; Smith T; Smith AC; Chen KS; Lupski JR; Wilcox ER; Potocki L; Friedman TB
Hum Genet; 2001 Nov; 109(5):535-41. PubMed ID: 11735029
[TBL] [Abstract][Full Text] [Related]
7. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
Lezirovitz K; Pardono E; de Mello Auricchio MT; de Carvalho E Silva FL; Lopes JJ; Abreu-Silva RS; Romanos J; Batissoco AC; Mingroni-Netto RC
Eur J Hum Genet; 2008 Jan; 16(1):89-96. PubMed ID: 17851452
[TBL] [Abstract][Full Text] [Related]
8. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Nal N; Ahmed ZM; Erkal E; Alper OM; Lüleci G; Dinç 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; 2007 Oct; 28(10):1014-9. PubMed ID: 17546645
[TBL] [Abstract][Full Text] [Related]
9. 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; 1999 Nov; 61(3):243-58. PubMed ID: 10552926
[TBL] [Abstract][Full Text] [Related]
10. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
Fattahi Z; Shearer AE; Babanejad M; Bazazzadegan N; Almadani SN; Nikzat N; Jalalvand K; Arzhangi S; Esteghamat F; Abtahi R; Azadeh B; Smith RJ; Kahrizi K; Najmabadi H
Am J Med Genet A; 2012 Aug; 158A(8):1857-64. PubMed ID: 22736430
[TBL] [Abstract][Full Text] [Related]
11. Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.
Masmoudi S; Charfedine I; Rebeh IB; Rebai A; Tlili A; Ghorbel AM; Belguith H; Petit C; Drira M; Ayadi H
Clin Genet; 2004 Oct; 66(4):358-64. PubMed ID: 15355440
[TBL] [Abstract][Full Text] [Related]
12. DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15.
Friedman TB; Hinnant JT; Fridell RA; Wilcox ER; Raphael Y; Camper SA
Adv Otorhinolaryngol; 2000; 56():131-44. PubMed ID: 10868225
[No Abstract] [Full Text] [Related]
13. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
Jain PK; Lalwani AK; Li XC; Singleton TL; Smith TN; Chen A; Deshmukh D; Verma IC; Smith RJ; Wilcox ER
Genomics; 1998 Jun; 50(2):290-2. PubMed ID: 9653658
[TBL] [Abstract][Full Text] [Related]
14. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
Cengiz FB; Duman D; Sirmaci A; Tokgöz-Yilmaz S; Erbek S; Oztürkmen-Akay H; Incesulu A; Edwards YJ; Ozdag H; Liu XZ; Tekin M
Genet Test Mol Biomarkers; 2010 Aug; 14(4):543-50. PubMed ID: 20642360
[TBL] [Abstract][Full Text] [Related]
15. 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
Am J Hum Genet; 1996 Jun; 58(6):1254-9. PubMed ID: 8651303
[TBL] [Abstract][Full Text] [Related]
16. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
Probst FJ; Chen KS; Zhao Q; Wang A; Friedman TB; Lupski JR; Camper SA
Genomics; 1999 Feb; 55(3):348-52. PubMed ID: 10049592
[TBL] [Abstract][Full Text] [Related]
17. Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
Berry A; Scott HS; Kudoh J; Talior I; Korostishevsky M; Wattenhofer M; Guipponi M; Barras C; Rossier C; Shibuya K; Wang J; Kawasaki K; Asakawa S; Minoshima S; Shimizu N; Antonarakis S; Bonné-Tamir B
Genomics; 2000 Aug; 68(1):22-9. PubMed ID: 10950923
[TBL] [Abstract][Full Text] [Related]
18. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
Ahmad J; Khan SN; Khan SY; Ramzan K; Riazuddin S; Ahmed ZM; Wilcox ER; Friedman TB; Riazuddin S
Hum Genet; 2005 Apr; 116(5):407-12. PubMed ID: 15711797
[TBL] [Abstract][Full Text] [Related]
19. A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
Ansar M; Din MA; Arshad M; Sohail M; Faiyaz-Ul-Haque M; Haque S; Ahmad W; Leal SM
Eur J Hum Genet; 2003 Jan; 11(1):77-80. PubMed ID: 12529709
[TBL] [Abstract][Full Text] [Related]
20. A novel type of myosin encoded by the mouse deafness gene shaker-2.
Wakabayashi Y; Takahashi Y; Kikkawa Y; Okano H; Mishima Y; Ushiki T; Yonekawa H; Kominami R
Biochem Biophys Res Commun; 1998 Jul; 248(3):655-9. PubMed ID: 9703981
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]