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 *

210 related articles for article (PubMed ID: 24053799)

  • 1. OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
    Iwasa Y; Nishio SY; Yoshimura H; Kanda Y; Kumakawa K; Abe S; Naito Y; Nagai K; Usami S
    BMC Med Genet; 2013 Sep; 14():95. PubMed ID: 24053799
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
    Tang F; Ma D; Wang Y; Qiu Y; Liu F; Wang Q; Lu Q; Shi M; Xu L; Liu M; Liang J
    BMC Med Genet; 2017 Mar; 18(1):35. PubMed ID: 28335750
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
    Matsunaga T; Mutai H; Kunishima S; Namba K; Morimoto N; Shinjo Y; Arimoto Y; Kataoka Y; Shintani T; Morita N; Sugiuchi T; Masuda S; Nakano A; Taiji H; Kaga K
    Clin Genet; 2012 Nov; 82(5):425-32. PubMed ID: 22575033
    [TBL] [Abstract][Full Text] [Related]  

  • 4. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
    Varga R; Avenarius MR; Kelley PM; Keats BJ; Berlin CI; Hood LJ; Morlet TG; Brashears SM; Starr A; Cohn ES; Smith RJ; Kimberling WJ
    J Med Genet; 2006 Jul; 43(7):576-81. PubMed ID: 16371502
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
    Miyagawa M; Nishio SY; Usami S;
    J Hum Genet; 2014 May; 59(5):262-8. PubMed ID: 24599119
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Screening of OTOF mutations in Iran: a novel mutation and review.
    Mahdieh N; Shirkavand A; Rabbani B; Tekin M; Akbari B; Akbari MT; Zeinali S
    Int J Pediatr Otorhinolaryngol; 2012 Nov; 76(11):1610-5. PubMed ID: 22906306
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
    Liu Y; Tan M; Cai L; Lv L; Chen Q; Chen W; Yang H; Xu Y
    Gene; 2022 Apr; 819():146258. PubMed ID: 35114279
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.
    Yuan Y; Yu F; Wang G; Huang S; Yu R; Zhang X; Huang D; Han D; Dai P
    J Transl Med; 2010 Dec; 8():127. PubMed ID: 21122151
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.
    Bae SH; Baek JI; Lee JD; Song MH; Kwon TJ; Oh SK; Jeong JY; Choi JY; Lee KY; Kim UK
    Gene; 2013 Jun; 522(1):65-9. PubMed ID: 23562982
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
    Wang DY; Wang YC; Weil D; Zhao YL; Rao SQ; Zong L; Ji YB; Liu Q; Li JQ; Yang HM; Shen Y; Benedict-Alderfer C; Zheng QY; Petit C; Wang QJ
    BMC Med Genet; 2010 May; 11():79. PubMed ID: 20504331
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
    Tekin M; Akcayoz D; Incesulu A
    Am J Med Genet A; 2005 Sep; 138(1):6-10. PubMed ID: 16097006
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
    Forli F; Capobianco S; Berrettini S; Bruschini L; Romano S; Fogli A; Bertini V; Lazzerini F
    Medicina (Kaunas); 2023 Feb; 59(2):. PubMed ID: 36837553
    [No Abstract]   [Full Text] [Related]  

  • 13. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
    Zhang QJ; Han B; Lan L; Zong L; Shi W; Wang HY; Xie LY; Wang H; Zhao C; Zhang C; Yin ZF; Wang DY; Petit C; Guan J; Wang QJ
    Clin Genet; 2016 Sep; 90(3):238-46. PubMed ID: 26818607
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
    Huang S; Yuan Y; Liu J; Han D; Kang D; Zhang X; Dong M; Yan X; Dai P
    Int J Pediatr Otorhinolaryngol; 2011 Oct; 75(10):1333-6. PubMed ID: 21868108
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
    Jin YJ; Park J; Kim AR; Rah YC; Choi BY
    Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1030-5. PubMed ID: 24814232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
    Wang J; Fan YY; Wang SJ; Liang PF; Wang JL; Qiu JH
    PLoS One; 2011; 6(9):e24000. PubMed ID: 21935370
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous
    Qiu Y; Chen S; Xie L; Xu K; Lin Y; Bai X; Zhang HM; Liu XZ; Jin Y; Sun Y; Kong WJ
    Neural Plast; 2019; 2019():9765276. PubMed ID: 31827501
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.
    Hu X; Liang F; Zhao M; Gong A; Berry ER; Shi Y; Wang Y; Chen Y; Liu A; Qu C
    Int J Pediatr Otorhinolaryngol; 2012 Oct; 76(10):1474-80. PubMed ID: 22796198
    [TBL] [Abstract][Full Text] [Related]  

  • 19. OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
    Iwasa YI; Nishio SY; Sugaya A; Kataoka Y; Kanda Y; Taniguchi M; Nagai K; Naito Y; Ikezono T; Horie R; Sakurai Y; Matsuoka R; Takeda H; Abe S; Kihara C; Ishino T; Morita SY; Iwasaki S; Takahashi M; Ito T; Arai Y; Usami SI
    PLoS One; 2019; 14(5):e0215932. PubMed ID: 31095577
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.