Schwartz CE - Search Results

1

Analysis of the neuroligin 4Y gene in patients with autism.

Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS. Yan J, et al. Among authors: schwartz ce. Psychiatr Genet. 2008 Aug;18(4):204-7. doi: 10.1097/YPG.0b013e3282fb7fe6. Psychiatr Genet. 2008. PMID: 18628683

2

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: schwartz ce. Am J Med Genet. 1994 Jun 1;51(2):169-75. doi: 10.1002/ajmg.1320510221. Am J Med Genet. 1994. PMID: 8092198

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: schwartz ce. Clin Genet. 1996 Oct;50(4):176-83. doi: 10.1111/j.1399-0004.1996.tb02622.x. Clin Genet. 1996. PMID: 9001795 Review.

4

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

Armfield K, Nelson R, Lubs HA, Häne B, Schroer RJ, Arena F, Schwartz CE, Stevenson RE. Armfield K, et al. Among authors: schwartz ce. Am J Med Genet. 1999 Jul 30;85(3):236-42. doi: 10.1002/(sici)1096-8628(19990730)85:3<236::aid-ajmg10>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10398235

5

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: schwartz ce. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

6

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.

Vervoort VS, Smith RJ, O'Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz CE. Vervoort VS, et al. Among authors: schwartz ce. Eur J Hum Genet. 2002 Nov;10(11):757-66. doi: 10.1038/sj.ejhg.5200877. Eur J Hum Genet. 2002. PMID: 12404110

7

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. Longo I, et al. J Med Genet. 2003 Jan;40(1):11-7. doi: 10.1136/jmg.40.1.11. J Med Genet. 2003. PMID: 12525535 Free PMC article.

8

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

9

High frequency of neurexin 1beta signal peptide structural variants in patients with autism.

Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS. Feng J, et al. Among authors: schwartz ce. Neurosci Lett. 2006 Nov 27;409(1):10-3. doi: 10.1016/j.neulet.2006.08.017. Epub 2006 Oct 10. Neurosci Lett. 2006. PMID: 17034946

10

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. 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.

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