Stevenson RE - Search Results

1

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Tarpey PS, et al. Among authors: stevenson re. Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704778 Free PMC article.

2

Allan-Herndon syndrome. I. Clinical studies.

Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.

3

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.

4

Fragile X syndrome: growth, development, and intellectual function.

Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Prouty LA, et al. Among authors: stevenson re. Am J Med Genet. 1988 May-Jun;30(1-2):123-42. doi: 10.1002/ajmg.1320300111. Am J Med Genet. 1988. PMID: 3177438

5

Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6.

Schroer RJ, Culp DM, Stevenson RE, Potts WE, Taylor HA, Simensen RJ. Schroer RJ, et al. Among authors: stevenson re. Clin Genet. 1980 Jul;18(1):83-7. doi: 10.1111/j.1399-0004.1980.tb01369.x. Clin Genet. 1980. PMID: 7418257

6

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Marinoni JC, et al. Among authors: stevenson re. Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x. Clin Genet. 1995. PMID: 7606850 Review.

7

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE. Stevenson RE, et al. Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317. Am J Med Genet. 1994. PMID: 7810566

8

X-linked mental retardation: the early era from 1943 to 1969.

Stevenson RE, Schwartz CE, Arena JF, Lubs HA. Stevenson RE, et al. Am J Med Genet. 1994 Jul 15;51(4):538-41. doi: 10.1002/ajmg.1320510450. Am J Med Genet. 1994. PMID: 7943037 No abstract available.

9

Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.

Lubs HA, Schwartz CE, Stevenson RE, Arena JF. Lubs HA, et al. Among authors: stevenson re. Am J Med Genet. 1996 Jul 12;64(1):169-75. doi: 10.1002/(SICI)1096-8628(19960712)64:1<169::AID-AJMG29>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8826469 Review.

10

Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks.

Stevenson RE, Schwartz CE, Du YZ, Adams MJ Jr. Stevenson RE, et al. Am J Hum Genet. 1997 Jan;60(1):229-30. Am J Hum Genet. 1997. PMID: 8981967 Free PMC article. No abstract available.

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