Jabs EW - Search Results

1

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Huang N, et al. Among authors: jabs ew. Am J Hum Genet. 2005 May;76(5):729-49. doi: 10.1086/429417. Epub 2005 Mar 25. Am J Hum Genet. 2005. PMID: 15793702 Free PMC article.

2

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Meyers GA, et al. Among authors: jabs ew. Nat Genet. 1995 Dec;11(4):462-4. doi: 10.1038/ng1295-462. Nat Genet. 1995. PMID: 7493034

3

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.

4

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

5

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Park WJ, et al. Among authors: jabs ew. Hum Mol Genet. 1995 Jul;4(7):1229-33. doi: 10.1093/hmg/4.7.1229. Hum Mol Genet. 1995. PMID: 8528214

6

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.

7

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Przylepa KA, et al. Among authors: jabs ew. Nat Genet. 1996 Aug;13(4):492-4. doi: 10.1038/ng0896-492. Nat Genet. 1996. PMID: 8696350

8

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW. Paznekas WA, et al. Among authors: jabs ew. Am J Hum Genet. 1998 Jun;62(6):1370-80. doi: 10.1086/301855. Am J Hum Genet. 1998. PMID: 9585583 Free PMC article.

9

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Graham JM Jr, et al. Among authors: jabs ew. Am J Med Genet. 1998 May 26;77(4):322-9. doi: 10.1002/(sici)1096-8628(19980526)77:4<322::aid-ajmg14>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9600744

10

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: jabs ew. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

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