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Page 1
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Faridi R, et al. Among authors: tona r. Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12. Hum Mutat. 2019. PMID: 30461122 Free PMC article.
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB. Tona R, et al. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.
Katsuno T, Belyantseva IA, Cartagena-Rivera AX, Ohta K, Crump SM, Petralia RS, Ono K, Tona R, Imtiaz A, Rehman A, Kiyonari H, Kaneko M, Wang YX, Abe T, Ikeya M, Fenollar-Ferrer C, Riordan GP, Wilson EA, Fitzgerald TS, Segawa K, Omori K, Ito J, Frolenkov GI, Friedman TB, Kitajiri SI. Katsuno T, et al. Among authors: tona r. JCI Insight. 2019 Jun 20;4(12):e128561. doi: 10.1172/jci.insight.128561. eCollection 2019 Jun 20. JCI Insight. 2019. PMID: 31217345 Free PMC article.
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
Morell RJ, Olszewski R, Tona R, Leitess S, Wafa TT, Taukulis I, Schultz JM, Thomason EJ, Richards K, Whitley BN, Hill C, Saunders T, Starost MF, Fitzgerald T, Wilson E, Ohyama T, Friedman TB, Hoa M. Morell RJ, et al. Among authors: tona r. J Neurosci. 2020 Apr 8;40(15):2976-2992. doi: 10.1523/JNEUROSCI.2278-19.2020. Epub 2020 Mar 9. J Neurosci. 2020. PMID: 32152201 Free PMC article.
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Among authors: tona r. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Adeyemo A, et al. Among authors: tona r. Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26. Eur J Hum Genet. 2022. PMID: 34837038 Free PMC article.
Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP.
Babahosseini H, Belyantseva IA, Yousaf R, Tona R, Hadi S, Inagaki S, Wilson E, Kitajiri SI, Frolenkov GI, Friedman TB, Cartagena-Rivera AX. Babahosseini H, et al. Among authors: tona r. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2115190119. doi: 10.1073/pnas.2115190119. Epub 2022 Jun 23. Proc Natl Acad Sci U S A. 2022. PMID: 35737845 Free PMC article.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI. Iwasa YI, et al. Among authors: tona r. Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18. Hum Genet. 2022. PMID: 34536124 Free PMC article.
33 results