May MM - Search Results

1

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T. Srivastava S, et al. Among authors: may mm. Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729724 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

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C. May M, et al. Hum Mol Genet. 1995 Aug;4(8):1465-6. doi: 10.1093/hmg/4.8.1465. Hum Mol Genet. 1995. PMID: 7581391 No abstract available.

4

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.

5

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

6

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

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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