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Results: 1 to 20 of 226

1.

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
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
8644708
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.

Am J Hum Genet. 2002 Feb;70(2):472-86. Epub 2002 Jan 4.

PMID:
11781872
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Cornejo-Roldan LR, Roessler E, Muenke M.

Hum Genet. 1999 May;104(5):425-31.

PMID:
10394936
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16418739
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.

Schaefer F, Anderson C, Can B, Say B.

Am J Med Genet. 1998 Jan 23;75(3):252-5.

PMID:
9475591
[PubMed - indexed for MEDLINE]
11.

Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.

Teebi AS, Kennedy S, Chun K, Ray PN.

Am J Med Genet. 2002 Jan 1;107(1):43-7.

PMID:
11807866
[PubMed - indexed for MEDLINE]
12.

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Zankl A, Jaeger G, Bonafé L, Boltshauser E, Superti-Furga A.

Am J Med Genet A. 2004 Dec 15;131(3):299-300.

PMID:
15523615
[PubMed - indexed for MEDLINE]
13.

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.

Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y.

Southeast Asian J Trop Med Public Health. 2001 Jun;32(2):425-8.

PMID:
11556600
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
16.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.

Am J Med Genet. 1998 Jul 24;78(4):356-60.

PMID:
9714439
[PubMed - indexed for MEDLINE]
17.

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.

Wong LJ, Chen TJ, Dai P, Bird L, Muenke M.

Am J Med Genet. 2001 Aug 15;102(3):282-5. Erratum in: Am J Med Genet 2002 Apr 22;109(2):166.

PMID:
11484208
[PubMed - indexed for MEDLINE]
18.

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.

Am J Hum Genet. 2000 Mar;66(3):768-77.

PMID:
10712195
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR.

Cytogenet Cell Genet. 2000;91(1-4):134-7.

PMID:
11173845
[PubMed - indexed for MEDLINE]

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