Smith RJ - Search Results

1

A progress report on the localization of Usher syndrome type II to chromosome 1q.

Weston MD, Kimberling WJ, Möller CG, Pieke Dahl S, Smith RJ, Martini A, Milani M. Weston MD, et al. Among authors: smith rj. Ann N Y Acad Sci. 1991;630:284-7. doi: 10.1111/j.1749-6632.1991.tb19606.x. Ann N Y Acad Sci. 1991. PMID: 1952607 No abstract available.

2

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: smith rj. 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.

3

Gene mapping of the Usher syndromes.

Kimberling W, Smith RJ. Kimberling W, et al. Among authors: smith rj. Otolaryngol Clin North Am. 1992 Oct;25(5):923-34. Otolaryngol Clin North Am. 1992. PMID: 1408196 Review.

4

Genetic studies of Usher syndrome.

Kimberling WJ, Weston MD, Pieke Dahl S, Kenyon JB, Shugart YY, Moller C, Davenport SL, Martini A, Milani M, Smith RJ. Kimberling WJ, et al. Among authors: smith rj. Ann N Y Acad Sci. 1991;630:167-75. doi: 10.1111/j.1749-6632.1991.tb19585.x. Ann N Y Acad Sci. 1991. PMID: 1952588 No abstract available.

5

Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions.

Pieke Dahl S, Weston MD, Kimberling WJ, Kenyon JB, Shugart YY, Smith RJ. Pieke Dahl S, et al. Among authors: smith rj. Ann N Y Acad Sci. 1991;630:298-300. doi: 10.1111/j.1749-6632.1991.tb19612.x. Ann N Y Acad Sci. 1991. PMID: 1952612 No abstract available.

6

Localization of Usher syndrome type II to chromosome 1q.

Kimberling WJ, Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ. Kimberling WJ, et al. Among authors: smith rj. Genomics. 1990 Jun;7(2):245-9. doi: 10.1016/0888-7543(90)90546-7. Genomics. 1990. PMID: 2347588

7

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Weston MD, et al. Among authors: smith rj. Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729113 Free PMC article.

8

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW. Kumar S, et al. Among authors: smith rj. Hum Mol Genet. 1992 Oct;1(7):491-5. doi: 10.1093/hmg/1.7.491. Hum Mol Genet. 1992. PMID: 1307249

9

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: smith rj. Am J Med Genet. 2002 May 15;109(4):291-7. doi: 10.1002/ajmg.10384. Am J Med Genet. 2002. PMID: 11992483

10

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

Keats BJ, Todorov AA, Atwood LD, Pelias MZ, Hejtmancik JF, Kimberling WJ, Leppert M, Lewis RA, Smith RJ. Keats BJ, et al. Among authors: smith rj. Genomics. 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7. Genomics. 1992. PMID: 1427898

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