Jabs EW - Search Results

1

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH. Ingersoll RG, et al. Among authors: jabs ew. Eur J Hum Genet. 2010 Jun;18(6):726-32. doi: 10.1038/ejhg.2009.228. Epub 2010 Jan 20. Eur J Hum Genet. 2010. PMID: 20087401 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

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Howard TD, et al. Among authors: jabs ew. Am J Hum Genet. 1997 Dec;61(6):1405-12. doi: 10.1086/301643. Am J Hum Genet. 1997. PMID: 9399901 Free PMC article.

5

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

6

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

7

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. Boyadjiev SA, et al. Among authors: jabs ew. Hum Genet. 2003 Jul;113(1):1-9. doi: 10.1007/s00439-003-0932-6. Epub 2003 Apr 3. Hum Genet. 2003. PMID: 12677423

8

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.

9

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

10

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. Ye X, et al. Among authors: jabs ew. Hum Genet. 2006 Mar;119(1-2):199-205. doi: 10.1007/s00439-005-0129-2. Epub 2006 Jan 11. Hum Genet. 2006. PMID: 16404586

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