Schwartz CE - Search Results

1

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Birnbaum RY, et al. Among authors: schwartz ce. Hum Mol Genet. 2012 Nov 15;21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914741 Free PMC article.

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

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

4

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

Grimm T, Teglund S, Tackels D, Sangiorgi E, Gurrieri F, Schwartz C, Toftgård R. Grimm T, et al. FEBS Lett. 2001 Sep 7;505(1):13-7. doi: 10.1016/s0014-5793(01)02682-5. FEBS Lett. 2001. PMID: 11557033 Free article.

5

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.

6

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

7

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

8

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Everman DB, et al. Among authors: schwartz ce. Am J Med Genet A. 2006 Jul 1;140(13):1375-83. doi: 10.1002/ajmg.a.31246. Am J Med Genet A. 2006. PMID: 16761290

9

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO. Babbs C, et al. Among authors: schwartz ce. Hum Genet. 2007 Sep;122(2):191-9. doi: 10.1007/s00439-007-0390-7. Epub 2007 Jun 14. Hum Genet. 2007. PMID: 17569090

10

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Kumar RA, Everman DB, Morgan CT, Slavotinek A, Schwartz CE, Simpson EM. Kumar RA, et al. Among authors: schwartz ce. BMC Med Genet. 2007 Jul 26;8:48. doi: 10.1186/1471-2350-8-48. BMC Med Genet. 2007. PMID: 17655765 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

583 results

Search Page

Filters