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Items: 14

1.

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.

Hum Mol Genet. 1995 Jul;4(7):1229-33.

PMID:
8528214
2.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.

Nat Genet. 1994 Sep;8(1):98-103.

PMID:
7987400
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.

Nat Genet. 1994 Nov;8(3):275-9. Erratum in: Nat Genet 1995 Apr;9(4):451.

PMID:
7874170
4.

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al.

Nat Genet. 1994 Nov;8(3):269-74.

PMID:
7874169
5.

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al.

Hum Mol Genet. 1995 Mar;4(3):323-8.

PMID:
7795583
6.

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.

Li X, Park WJ, Pyeritz RE, Jabs EW.

Nat Genet. 1995 Mar;9(3):232-3. No abstract available.

PMID:
7773284
7.

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al.

Nat Genet. 1995 Feb;9(2):173-6.

PMID:
7719345
8.

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al.

Nat Genet. 1995 Feb;9(2):165-72.

PMID:
7719344
9.

FGFR2 mutations in Pfeiffer syndrome.

Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D.

Nat Genet. 1995 Feb;9(2):108. No abstract available.

PMID:
7719333
10.

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.

Am J Hum Genet. 1995 Aug;57(2):321-8.

11.

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM, et al.

Hum Mol Genet. 1995 Jun;4(6):1077-82.

PMID:
7655462
12.

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.

Hum Mol Genet. 1995 Aug;4(8):1387-90.

PMID:
7581378
13.

Fluorescence detection in automated DNA sequence analysis.

Smith LM, Sanders JZ, Kaiser RJ, Hughes P, Dodd C, Connell CR, Heiner C, Kent SB, Hood LE.

Nature. 1986 Jun 12-18;321(6071):674-9.

PMID:
3713851
14.

Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA.

J Pediatr. 1976 Jun;88(6):963-8.

PMID:
1271196

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