Stevenson RE - Search Results

1

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. Hackett A, et al. Among authors: stevenson re. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Eur J Hum Genet. 2010. PMID: 20029458 Free PMC article.

2

MRX8: an X-linked mental retardation condition with linkage to Xq21.

Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):467-74. doi: 10.1002/ajmg.1320430170. Am J Med Genet. 1992. PMID: 1605227

3

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. Bialer MG, et al. Among authors: stevenson re. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):491-7. doi: 10.1002/ajmg.1320430173. Am J Med Genet. 1992. PMID: 1605231

4

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.

5

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.

6

The parental origin and mechanism of formation of three dicentric X chromosomes.

Phelan MC, Prouty LA, Stevenson RE, Howard-Peebles PN, Page DC, Schwartz CE. Phelan MC, et al. Among authors: stevenson re. Hum Genet. 1988 Sep;80(1):81-4. doi: 10.1007/BF00451462. Hum Genet. 1988. PMID: 3417308

7

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al. Tranebjaerg L, et al. Among authors: stevenson re. J Med Genet. 1995 Apr;32(4):257-63. doi: 10.1136/jmg.32.4.257. J Med Genet. 1995. PMID: 7643352 Free PMC article.

8

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

9

Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

Schwartz CE, Dean J, Howard-Peebles PN, Bugge M, Mikkelsen M, Tommerup N, Hull C, Hagerman R, Holden JJ, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Med Genet. 1994 Jul 15;51(4):400-2. doi: 10.1002/ajmg.1320510419. Am J Med Genet. 1994. PMID: 7943006

10

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.

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