Stevenson RE - Search Results

1

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

2

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

3

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

Häne B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE. Häne B, et al. Among authors: stevenson re. Clin Genet. 1996 Oct;50(4):176-83. doi: 10.1111/j.1399-0004.1996.tb02622.x. Clin Genet. 1996. PMID: 9001795 Review.

4

Autism and maternally derived aberrations of chromosome 15q.

Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. Schroer RJ, et al. Among authors: stevenson re. Am J Med Genet. 1998 Apr 1;76(4):327-36. doi: 10.1002/(sici)1096-8628(19980401)76:4<327::aid-ajmg8>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9545097

5

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.

Bhat SS, Ladd S, Grass F, Spence JE, Brasington CK, Simensen RJ, Schwartz CE, Dupont BR, Stevenson RE, Srivastava AK. Bhat SS, et al. Among authors: stevenson re. Clin Genet. 2008 Jan;73(1):94-6. doi: 10.1111/j.1399-0004.2007.00920.x. Epub 2007 Nov 14. Clin Genet. 2008. PMID: 18005360 No abstract available.

6

Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

Stevenson RE, Taylor HA Jr, Parks SE. Stevenson RE, et al. Clin Genet. 1978 Mar;13(3):305-13. doi: 10.1111/j.1399-0004.1978.tb01185.x. Clin Genet. 1978. PMID: 416929

7

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.

8

A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

Stevenson RE, Taylor HA Jr, Burton OM, Hearn HB 3rd. Stevenson RE, et al. J Med Genet. 1980 Jun;17(3):238-42. doi: 10.1136/jmg.17.3.238. J Med Genet. 1980. PMID: 7401139 Free PMC article.

9

Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q.

Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE. Wang Y, et al. Among authors: stevenson re. Am J Med Genet. 1994 Jun 1;51(2):169-75. doi: 10.1002/ajmg.1320510221. Am J Med Genet. 1994. PMID: 8092198

10

Cognitive function in Coffin-Lowry syndrome.

Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: stevenson re. Clin Genet. 2002 Apr;61(4):299-304. doi: 10.1034/j.1399-0004.2002.610410.x. Clin Genet. 2002. PMID: 12030896

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