Jabs EW - Search Results

1

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.

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

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.

Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, Jabs EW. Reid CS, et al. Among authors: jabs ew. Am J Med Genet. 1993 Oct 1;47(5):637-9. doi: 10.1002/ajmg.1320470511. Am J Med Genet. 1993. PMID: 8266989

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

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: jabs ew. Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137. Hum Mol Genet. 1997. PMID: 9002682

7

Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.

Filkins K, Russo JF, Boehmer S, Camous M, Przylepa KA, Jiang W, Jabs EW. Filkins K, et al. Among authors: jabs ew. Prenat Diagn. 1997 Nov;17(11):1081-4. doi: 10.1002/(sici)1097-0223(199711)17:11<1081::aid-pd198>3.0.co;2-2. Prenat Diagn. 1997. PMID: 9399359

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

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

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Okajima K, et al. Among authors: jabs ew. Am J Med Genet. 1999 Jul 16;85(2):160-70. doi: 10.1002/(sici)1096-8628(19990716)85:2<160::aid-ajmg11>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10406670

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