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Items: 1 to 20 of 347

1.

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA.

Hum Genet. 1997 Nov;101(1):47-50.

PMID:
9385368
2.

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF.

Am J Med Genet. 1998 Jul 7;78(3):237-41.

PMID:
9677057
3.

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
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.

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

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.

Am J Hum Genet. 1996 Mar;58(3):491-8.

6.

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
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.

Nat Genet. 1996 Aug;13(4):492-4.

PMID:
8696350
8.

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G.

Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. Review.

PMID:
24656465
9.

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.

Hum Genet. 1997 May;99(5):602-6.

PMID:
9150725
10.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.

Eur J Hum Genet. 2006 Mar;14(3):289-98.

11.

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
12.

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G.

Eur J Pediatr. 2009 Sep;168(9):1135-9. doi: 10.1007/s00431-008-0884-x. Epub 2008 Dec 6.

PMID:
19066959
13.

Mutation detection in FGFR2 craniosynostosis syndromes.

Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.

Hum Genet. 1997 Feb;99(2):251-5.

PMID:
9048930
14.

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

Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.

Nat Genet. 1995 Dec;11(4):462-4.

PMID:
7493034
15.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M.

Nat Genet. 1996 Oct;14(2):174-6.

PMID:
8841188
16.

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

Steinberger D, Reinhartz T, Unsöld R, Müller U.

Am J Med Genet. 1996 Dec 2;66(1):81-6.

PMID:
8957519
17.

[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].

van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, Herbergs J, Pals G.

Ned Tijdschr Geneeskd. 2002 Jan 12;146(2):63-6. Review. Dutch.

PMID:
11820058
18.

The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

Steinberger D, Vriend G, Mulliken JB, Müller U.

Hum Genet. 1998 Feb;102(2):145-50. Erratum in: Hum Genet 1998 Apr;102(4):495.

PMID:
9521581
19.

Molecular genetics of craniosynostotic syndromes.

Müller U, Steinberger D, Kunze S.

Graefes Arch Clin Exp Ophthalmol. 1997 Sep;235(9):545-50. Review.

PMID:
9342602
20.

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.

Ma HW, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D.

Hum Genet. 1995 Dec;96(6):731-5.

PMID:
8522336

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