These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

323 related articles for article (PubMed ID: 12687499)

  • 1. Mutations of MYO6 are associated with recessive deafness, DFNB37.
    Ahmed ZM; Morell RJ; Riazuddin S; Gropman A; Shaukat S; Ahmad MM; Mohiddin SA; Fananapazir L; Caruso RC; Husnain T; Khan SN; Riazuddin S; Griffith AJ; Friedman TB; Wilcox ER
    Am J Hum Genet; 2003 May; 72(5):1315-22. PubMed ID: 12687499
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
    Sanggaard KM; Kjaer KW; Eiberg H; Nürnberg G; Nürnberg P; Hoffman K; Jensen H; Sørum C; Rendtorff ND; Tranebjaerg L
    Am J Med Genet A; 2008 Apr; 146A(8):1017-25. PubMed ID: 18348273
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
    Melchionda S; Ahituv N; Bisceglia L; Sobe T; Glaser F; Rabionet R; Arbones ML; Notarangelo A; Di Iorio E; Carella M; Zelante L; Estivill X; Avraham KB; Gasparini P
    Am J Hum Genet; 2001 Sep; 69(3):635-40. PubMed ID: 11468689
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice.
    Avraham KB; Hasson T; Sobe T; Balsara B; Testa JR; Skvorak AB; Morton CC; Copeland NG; Jenkins NA
    Hum Mol Genet; 1997 Aug; 6(8):1225-31. PubMed ID: 9259267
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical Characteristics and In Vitro Analysis of
    Oka SI; Day TF; Nishio SY; Moteki H; Miyagawa M; Morita S; Izumi S; Ikezono T; Abe S; Nakayama J; Hyogo M; Okamoto N; Uehara N; Oshikawa C; Kitajiri SI; Usami SI
    Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32143290
    [No Abstract]   [Full Text] [Related]  

  • 6. Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.
    Miyagawa M; Nishio SY; Kumakawa K; Usami S
    Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():148S-57S. PubMed ID: 25999546
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding.
    Arden SD; Tumbarello DA; Butt T; Kendrick-Jones J; Buss F
    Biochem J; 2016 Oct; 473(19):3307-19. PubMed ID: 27474411
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
    Hilgert N; Topsakal V; van Dinther J; Offeciers E; Van de Heyning P; Van Camp G
    Eur J Hum Genet; 2008 May; 16(5):593-602. PubMed ID: 18212818
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.
    Volk AE; Lang-Roth R; Yigit G; Borck G; Nuernberg G; Rosenkranz S; Nuernberg P; Kubisch C; Beutner D
    Audiol Neurootol; 2013; 18(3):192-9. PubMed ID: 23635807
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
    Ahmed ZM; Li XC; Powell SD; Riazuddin S; Young TL; Ramzan K; Ahmad Z; Luscombe S; Dhillon K; MacLaren L; Ploplis B; Shotland LI; Ives E; Riazuddin S; Friedman TB; Morell RJ; Wilcox ER
    BMC Med Genet; 2004 Sep; 5():24. PubMed ID: 15447792
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
    Cheng J; Zhou X; Lu Y; Chen J; Han B; Zhu Y; Liu L; Choy KW; Han D; Sham PC; Zhang MQ; Zhang X; Yuan H
    Ann Hum Genet; 2014 Nov; 78(6):410-23. PubMed ID: 25227905
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
    Sampaio-Silva J; Batissoco AC; Jesus-Santos R; Abath-Neto O; Scarpelli LC; Nishimura PY; Galindo LT; Bento RF; Oiticica J; Lezirovitz K
    Ann Hum Genet; 2018 Jan; 82(1):23-34. PubMed ID: 29044474
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
    Wang J; Shen J; Guo L; Cheng C; Chai R; Shu Y; Li H
    Hear Res; 2019 Aug; 379():79-88. PubMed ID: 31103816
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
    Rehman AU; Santos-Cortez RL; Morell RJ; Drummond MC; Ito T; Lee K; Khan AA; Basra MA; Wasif N; Ayub M; Ali RA; Raza SI; ; Nickerson DA; Shendure J; Bamshad M; Riazuddin S; Billington N; Khan SN; Friedman PL; Griffith AJ; Ahmad W; Riazuddin S; Leal SM; Friedman TB
    Am J Hum Genet; 2014 Jan; 94(1):144-52. PubMed ID: 24387994
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
    Shabbir MI; Ahmed ZM; Khan SY; Riazuddin S; Waryah AM; Khan SN; Camps RD; Ghosh M; Kabra M; Belyantseva IA; Friedman TB; Riazuddin S
    J Med Genet; 2006 Aug; 43(8):634-40. PubMed ID: 16459341
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
    Topsakal V; Hilgert N; van Dinther J; Tranebjaerg L; Rendtorff ND; Zarowski A; Offeciers E; Van Camp G; van de Heyning P
    Audiol Neurootol; 2010; 15(4):211-20. PubMed ID: 19893302
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic structure of the human unconventional myosin VI gene.
    Ahituv N; Sobe T; Robertson NG; Morton CC; Taggart RT; Avraham KB
    Gene; 2000 Dec; 261(2):269-75. PubMed ID: 11167014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
    Kim BJ; Han JH; Park HR; Kim MY; Kim AR; Oh SH; Park WY; Oh DY; Lee S; Choi BY
    J Gene Med; 2018 Jun; 20(6):e3019. PubMed ID: 29607572
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
    Tian T; Lu Y; Yao J; Cao X; Wei Q; Li Q
    Genes Genet Syst; 2018 Dec; 93(5):171-179. PubMed ID: 30175721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.