Schwartz CE - Search Results

1

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.

Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Radhakrishna U, et al. Among authors: schwartz ce. J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826. J Med Genet. 2012. PMID: 22499347 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

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.

4

Fragile X syndrome: linkage analysis in black and white populations.

Schwartz CE, Phelan MC, Brightharp C, Pancoast I, Howard-Peebles PN, Thibodeau S, Brown WT, Jenkins EC. Schwartz CE, et al. Am J Med Genet. 1988 May-Jun;30(1-2):531-42. doi: 10.1002/ajmg.1320300155. Am J Med Genet. 1988. PMID: 3177470

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. Among authors: schwartz ce. Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317. Am J Med Genet. 1994. PMID: 7810566

6

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

7

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. Brown A, et al. Am J Med Genet. 1996 May 17;63(2):373-7. doi: 10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8725788

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

Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22.

Häne B, Stevenson RE, Arena JF, Lubs HA, Simensen RJ, Schwartz CE. Häne B, et al. Among authors: schwartz ce. Am J Med Genet. 1999 Jul 30;85(3):271-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<271::aid-ajmg17>3.3.co;2-r. Am J Med Genet. 1999. PMID: 10398242

10

P63 mutations are not a major cause of non-syndromic split hand/foot malformation.

de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth AS, Graham JM Jr, Stevenson RE, Schwartz CE. de Mollerat XJ, et al. Among authors: schwartz ce. J Med Genet. 2003 Jan;40(1):55-61. doi: 10.1136/jmg.40.1.55. J Med Genet. 2003. PMID: 12525544 Free PMC article. No abstract available.

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