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Items: 1 to 20 of 89

1.

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO.

Science. 2003 Aug 1;301(5633):643-6.

PMID:
12893942
2.

Development. There's something curious about paternal-age effects.

Crow JF.

Science. 2003 Aug 1;301(5633):606-7. No abstract available.

PMID:
12893932
3.

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.

Goriely A, McVean GA, van Pelt AM, O'Rourke AW, Wall SA, de Rooij DG, Wilkie AO.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6051-6. Epub 2005 Apr 19.

PMID:
15840724
4.

Exclusive paternal origin of new mutations in Apert syndrome.

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO.

Nat Genet. 1996 May;13(1):48-53.

PMID:
8673103
5.

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
6.

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.

Eur J Hum Genet. 2005 Apr;13(4):503-5.

PMID:
15523492
7.

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

Tsai FJ, Hwu WL, Lin SP, Chang JG, Wang TR, Tsai CH.

Hum Mutat. 1998;Suppl 1:S18-9. No abstract available.

PMID:
9452027
8.

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S.

J Craniofac Surg. 2003 Jan;14(1):101-4; discussion 105-7.

PMID:
12544231
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.

A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.

Tanimoto Y, Yokozeki M, Hiura K, Matsumoto K, Nakanishi H, Matsumoto T, Marie PJ, Moriyama K.

J Biol Chem. 2004 Oct 29;279(44):45926-34. Epub 2004 Aug 13.

PMID:
15310757
11.

Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

Mathijssen IM, Vaandrager JM, Hoogeboom AJ, Hesseling-Janssen AL, van den Ouweland AM.

J Craniofac Surg. 1998 May;9(3):207-9.

PMID:
9693549
12.

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

Anderson J, Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK.

Hum Mol Genet. 1998 Sep;7(9):1475-83.

PMID:
9700203
13.

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.

Hansen RM, Goriely A, Wall SA, Roberts IS, Wilkie AO.

J Pathol. 2005 Sep;207(1):27-31.

PMID:
16010693
14.

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M.

Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7182-7. Epub 2001 Jun 5.

PMID:
11390973
15.

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
16.

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

Priolo M, Lerone M, Baffico M, Baldi M, Ravazzolo R, Cama A, Capra V, Silengo M.

Clin Genet. 2000 Jul;58(1):81-3. No abstract available.

PMID:
10945669
17.

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].

Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.

Rinsho Byori. 1996 May;44(5):435-8. Japanese.

PMID:
8676562
18.

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
19.

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
20.

Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.

Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E.

J Craniofac Surg. 2001 Nov;12(6):580-5.

PMID:
11711827

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