PubMed (OMIM) for id: 322051

Year	Number of Results
1989	1
1996	2
2000	1
2001	3
2002	5
2003	2
2005	1
2024	0

1

Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ. Schultz JM, et al. N Engl J Med. 2005 Apr 14;352(15):1557-64. doi: 10.1056/NEJMoa043899. N Engl J Med. 2005. PMID: 15829536 Free article.

2

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

Noben-Trauth K, Zheng QY, Johnson KR. Noben-Trauth K, et al. Nat Genet. 2003 Sep;35(1):21-3. doi: 10.1038/ng1226. Epub 2003 Aug 10. Nat Genet. 2003. PMID: 12910270 Free PMC article.

3

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

4

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C. Boëda B, et al. EMBO J. 2002 Dec 16;21(24):6689-99. doi: 10.1093/emboj/cdf689. EMBO J. 2002. PMID: 12485990 Free PMC article.

5

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U. Siemens J, et al. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14946-51. doi: 10.1073/pnas.232579599. Epub 2002 Oct 29. Proc Natl Acad Sci U S A. 2002. PMID: 12407180 Free PMC article.

6

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.

7

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A. von Brederlow B, et al. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

8

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

9

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K. Di Palma F, et al. Nat Genet. 2001 Jan;27(1):103-7. doi: 10.1038/83660. Nat Genet. 2001. PMID: 11138008

10

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.

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