Jabs EW - Search Results

1

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

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

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

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

5

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.

6

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

7

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.

8

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Flanagan N, et al. Among authors: jabs ew. J Med Genet. 1998 Sep;35(9):763-6. doi: 10.1136/jmg.35.9.763. J Med Genet. 1998. PMID: 9733036 Free PMC article.

9

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. Tavormina PL, et al. Among authors: jabs ew. Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275. Am J Hum Genet. 1999. PMID: 10053006 Free PMC article.

10

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Among authors: jabs ew. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013

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