Jabs EW - Search Results

1

Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, Wang H, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Beaty TH. Wu T, et al. Among authors: jabs ew. Hum Genet. 2010 Oct;128(4):401-10. doi: 10.1007/s00439-010-0863-y. Epub 2010 Jul 23. Hum Genet. 2010. PMID: 20652317 Free PMC article.

2

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW. Park WJ, et al. Among authors: jabs ew. Am J Hum Genet. 1995 Aug;57(2):321-8. Am J Hum Genet. 1995. PMID: 7668257 Free PMC article.

3

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

4

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.

5

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Glaser RL, et al. Among authors: jabs ew. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

6

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

7

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

8

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

9

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. Glaser RL, et al. Among authors: jabs ew. Am J Hum Genet. 2003 Oct;73(4):939-47. doi: 10.1086/378419. Epub 2003 Jul 31. Am J Hum Genet. 2003. PMID: 12900791 Free PMC article.

10

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Cai J, et al. Among authors: jabs ew. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012-7. Epub 2003 Sep 25. Hum Genet. 2003. PMID: 14513358

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