Similar articles for PMID: 29148562

Year	Number of Results
2000	1
2001	3
2002	3
2003	1
2004	1
2006	1
2007	1
2008	1
2009	1
2010	1
2011	2
2012	2
2014	2
2015	3
2016	8
2017	6
2018	5
2019	3
2020	10
2021	4
2022	5
2023	2
2024	0

1

Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.

Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S. Vanniya S P, et al. Ann Hum Genet. 2018 Mar;82(2):119-126. doi: 10.1111/ahg.12228. Epub 2017 Nov 17. Ann Hum Genet. 2018. PMID: 29148562

2

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F. Ramzan K, et al. Genes (Basel). 2020 Dec 9;11(12):1474. doi: 10.3390/genes11121474. Genes (Basel). 2020. PMID: 33316915 Free PMC article.

3

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

Amritkumar P, Jeffrey JM, Chandru J, Vanniya S P, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, Srikumari Srisailapathy CR. Amritkumar P, et al. BMC Med Genet. 2018 Jun 19;19(1):105. doi: 10.1186/s12881-018-0609-6. BMC Med Genet. 2018. PMID: 29921236 Free PMC article.

4

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Schultz JM, et al. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940737

5

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.

6

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.

Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY. Kim BJ, et al. PLoS One. 2016 Oct 28;11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016. PLoS One. 2016. PMID: 27792758 Free PMC article.

7

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. Astuto LM, et al. Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075507 Free PMC article.

8

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

9

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY. Kim SY, et al. J Transl Med. 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. J Transl Med. 2015. PMID: 26264712 Free PMC article.

10

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW. Pennings RJ, et al. Otol Neurotol. 2004 Sep;25(5):699-706. doi: 10.1097/00129492-200409000-00009. Otol Neurotol. 2004. PMID: 15353998

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