Jabs EW - Search Results

1

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.

Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Sull JW, et al. Among authors: jabs ew. Am J Med Genet A. 2008 Sep 15;146A(18):2327-31. doi: 10.1002/ajmg.a.32302. Am J Med Genet A. 2008. PMID: 18688869 Free PMC article.

2

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jabs EW, et al. Nat Genet. 1994 Nov;8(3):275-9. doi: 10.1038/ng1194-275. Nat Genet. 1994. PMID: 7874170

3

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. Meyers GA, et al. Among authors: jabs ew. Am J Hum Genet. 1996 Mar;58(3):491-8. Am J Hum Genet. 1996. PMID: 8644708 Free PMC article.

4

Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.

Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. Ingersoll RG, et al. Among authors: jabs ew. Cytogenet Cell Genet. 2001;94(3-4):121-6. doi: 10.1159/000048802. Cytogenet Cell Genet. 2001. PMID: 11856867

5

Genetic and environmental risk factors for sagittal craniosynostosis.

Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Zeiger JS, et al. Among authors: jabs ew. J Craniofac Surg. 2002 Sep;13(5):602-6. doi: 10.1097/00001665-200209000-00002. J Craniofac Surg. 2002. PMID: 12218784

6

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Shoo BA, McPherson E, Jabs EW. Shoo BA, et al. Among authors: jabs ew. Am J Med Genet A. 2004 Apr 1;126A(1):84-8. doi: 10.1002/ajmg.a.20488. Am J Med Genet A. 2004. PMID: 15039977

7

Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3).

Cheah FS, Jabs EW, Chong SS. Cheah FS, et al. Among authors: jabs ew. Dev Dyn. 2005 Apr;232(4):1021-30. doi: 10.1002/dvdy.20282. Dev Dyn. 2005. PMID: 15739231 Free article.

8

Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.

Ben J, Jabs EW, Chong SS. Ben J, et al. Among authors: jabs ew. Gene Expr Patterns. 2005 Jun;5(5):629-38. doi: 10.1016/j.modgep.2005.03.002. Epub 2005 Apr 19. Gene Expr Patterns. 2005. PMID: 15939375

9

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.

Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. Park JW, et al. Among authors: jabs ew. J Med Genet. 2006 Jul;43(7):598-608. doi: 10.1136/jmg.2005.040162. Epub 2006 Jan 13. J Med Genet. 2006. PMID: 16415175 Free PMC article.

10

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Beaty TH, et al. Among authors: jabs ew. Hum Genet. 2006 Nov;120(4):501-18. doi: 10.1007/s00439-006-0235-9. Epub 2006 Sep 5. Hum Genet. 2006. PMID: 16953426

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