Schwartz CE - Search Results

1

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Jackson PB, et al. Among authors: schwartz ce. Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87. Autism Res. 2009. PMID: 19681062

2

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077

3

XLMR genes: update 1996.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. Lubs HA, et al. Am J Med Genet. 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826465 Review.

4

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G. Schwartz CE, et al. Eur J Hum Genet. 2000 Nov;8(11):869-74. doi: 10.1038/sj.ejhg.5200553. Eur J Hum Genet. 2000. PMID: 11093277

5

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE. Tackels-Horne D, et al. Among authors: schwartz ce. Clin Genet. 2001 Jan;59(1):28-36. doi: 10.1034/j.1399-0004.2001.590105.x. Clin Genet. 2001. PMID: 11168022

6

Cognitive function in Coffin-Lowry syndrome.

Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: schwartz ce. Clin Genet. 2002 Apr;61(4):299-304. doi: 10.1034/j.1399-0004.2002.610410.x. Clin Genet. 2002. PMID: 12030896

7

Detecting polymorphisms and mutations in candidate genes.

Collins JS, Schwartz CE. Collins JS, et al. Among authors: schwartz ce. Am J Hum Genet. 2002 Nov;71(5):1251-2. doi: 10.1086/344344. Am J Hum Genet. 2002. PMID: 12452182 Free PMC article. No abstract available.

8

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. de Mollerat XJ, et al. Among authors: schwartz ce. Hum Mol Genet. 2003 Aug 15;12(16):1959-71. doi: 10.1093/hmg/ddg212. Hum Mol Genet. 2003. PMID: 12913067

9

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

10

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE. Lyle R, et al. Among authors: schwartz ce. Am J Med Genet A. 2006 Jul 1;140(13):1384-95. doi: 10.1002/ajmg.a.31247. Am J Med Genet A. 2006. PMID: 16691619

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