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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: weston md. 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: weston md. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483
Genetic heterogeneity of Usher syndrome type II.
Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JM, Pikus A, Möller C. Pieke Dahl S, et al. Among authors: weston md. J Med Genet. 1993 Oct;30(10):843-8. doi: 10.1136/jmg.30.10.843. J Med Genet. 1993. PMID: 7901420 Free PMC article.
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. 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: weston md. 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.
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ. Astuto LM, et al. Among authors: weston md. Am J Hum Genet. 2000 Dec;67(6):1569-74. doi: 10.1086/316889. Epub 2000 Nov 1. Am J Hum Genet. 2000. PMID: 11060213 Free PMC article.
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