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Page 1
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. Among authors: kimberling wj. 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.
Searching for evidence of DFNB2.
Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ. Astuto LM, et al. Among authors: kimberling wj. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483
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. Among authors: kimberling wj. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: kimberling wj. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.
Analysis of DNA elements that modulate myosin VIIA expression in humans.
Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ. Orten DJ, et al. Among authors: kimberling wj. Hum Mutat. 1999 Oct;14(4):354. doi: 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1999. Corrected and republished in: Hum Mutat. 2000 Jan;15(1):114-5. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4 PMID: 10502787 Corrected and republished.
231 results