May MM - Search Results

1

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: may mm. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 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. 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

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. 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.

4

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

5

Agenesis of the corpus callosum associated with MASA syndrome.

Boyd E, Schwartz CE, Schroer RJ, May MM, Shapiro SD, Arena JF, Lubs HA, Stevenson RE. Boyd E, et al. Among authors: may mm. Clin Dysmorphol. 1993 Oct;2(4):332-41. Clin Dysmorphol. 1993. PMID: 8305964

6

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Colleaux L, May M, Belougne J, Lepaslier D, Schwartz C, Fontes M. Colleaux L, et al. J Med Genet. 1996 May;33(5):353-7. doi: 10.1136/jmg.33.5.353. J Med Genet. 1996. PMID: 8733041 Free PMC article.

7

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. Jin H, et al. Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. Nat Genet. 1996. PMID: 8841189

8

Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.

May M, Huston S, Wilroy RS, Schwartz C. May M, et al. Am J Med Genet. 1997 Jan 20;68(2):244-8. doi: 10.1002/(sici)1096-8628(19970120)68:2<244::aid-ajmg27>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9028470

9

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Stevenson RE, Häne B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE. Stevenson RE, et al. J Med Genet. 1997 Jun;34(6):465-9. doi: 10.1136/jmg.34.6.465. J Med Genet. 1997. PMID: 9192265 Free PMC article.

10

Renpenning syndrome maps to Xp11.

Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Stevenson RE, et al. Am J Hum Genet. 1998 May;62(5):1092-101. doi: 10.1086/301835. Am J Hum Genet. 1998. PMID: 9545405 Free PMC article.

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