Schwartz CE - Search Results

1

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S. Larcher L, et al. Among authors: schwartz ce. Eur J Med Genet. 2020 Apr;63(4):103777. doi: 10.1016/j.ejmg.2019.103777. Epub 2019 Sep 30. Eur J Med Genet. 2020. PMID: 31580924

2

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. Cason AL, et al. Among authors: schwartz ce. Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504

3

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Abidi FE, et al. Among authors: schwartz ce. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

4

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MacMillan A, Holden JJ, Gecz J, Stevenson RE, Schwartz CE. Stepp ML, et al. Among authors: schwartz ce. BMC Med Genet. 2005 Apr 25;6:16. doi: 10.1186/1471-2350-6-16. BMC Med Genet. 2005. PMID: 15850492 Free PMC article.

5

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Schwartz CE, et al. Am J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Am J Hum Genet. 2005. PMID: 15889350 Free PMC article.

6

AGTR2 in brain development and function.

Vervoort VS, Guzauskas G, Archie J, Schwartz CE, Stevenson RE, Srivastava AK. Vervoort VS, et al. Among authors: schwartz ce. Am J Med Genet A. 2006 Mar 1;140(5):419-20. doi: 10.1002/ajmg.a.31046. Am J Med Genet A. 2006. PMID: 16463274 Free PMC article. No abstract available.

7

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. Clark AJ, et al. Among authors: schwartz ce. Hum Genet. 2006 Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26. Hum Genet. 2006. PMID: 16738945

8

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi FE, et al. Among authors: schwartz ce. J Med Genet. 2008 Dec;45(12):787-93. doi: 10.1136/jmg.2008.058990. Epub 2008 Aug 12. J Med Genet. 2008. PMID: 18697827 Free PMC article.

9

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Lyons MJ, et al. Among authors: schwartz ce. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805826

10

Partial ATRX gene duplication causes ATR-X syndrome.

Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ. Cohn DM, et al. Among authors: schwartz ce. Am J Med Genet A. 2009 Oct;149A(10):2317-20. doi: 10.1002/ajmg.a.33006. Am J Med Genet A. 2009. PMID: 19764021 No abstract available.

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