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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2003 1
2004 2
2006 1
2012 2
2015 3
2016 1
2017 2
2019 1
2021 1
2024 0

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PubMed for id: 12230235

13 results

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Page 1
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. Michel V, et al. EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087. EMBO Mol Med. 2017. PMID: 29084757 Free PMC article.
PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. Booth KT, et al. Am J Med Genet A. 2015 Dec;167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29. Am J Med Genet A. 2015. PMID: 26416264 Free PMC article.
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H. Seco CZ, et al. Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173970 Free PMC article.
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.
Analysis of the DNA sequence and duplication history of human chromosome 15.
Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C. Zody MC, et al. Nature. 2006 Mar 30;440(7084):671-5. doi: 10.1038/nature04601. Nature. 2006. PMID: 16572171
13 results