140 related articles for article (PubMed ID: 12140430)
1. Re: Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis. Sakai et al. J Craniofac. Surg. 2001, 12: 580-585.
Warren SM; Longaker MT
J Craniofac Surg; 2002 Jul; 13(4):597-9. PubMed ID: 12140430
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 11781872
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 9521581
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 11711827
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11173845
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15523492
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 7874170
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 8841188
[TBL] [Abstract][Full Text] [Related]
9. Craniosynostosis and related limb anomalies.
Wilkie AO; Oldridge M; Tang Z; Maxson RE
Novartis Found Symp; 2001; 232():122-33; discussion 133-43. PubMed ID: 11277076
[TBL] [Abstract][Full Text] [Related]
10. 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; Feingold M; Moeschler JB; Rawnsley E; Scott AF; Jabs EW
Am J Hum Genet; 1996 Mar; 58(3):491-8. PubMed ID: 8644708
[TBL] [Abstract][Full Text] [Related]
11. 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; 78(3):237-41. PubMed ID: 9677057
[TBL] [Abstract][Full Text] [Related]
12. 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
Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
[TBL] [Abstract][Full Text] [Related]
13. 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
Nat Genet; 1995 Feb; 9(2):173-6. PubMed ID: 7719345
[TBL] [Abstract][Full Text] [Related]
14. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
Zackai EH; McDonald-McGinn DM; Stolle C; Huff DS
Clin Dysmorphol; 2003 Jul; 12(3):209. PubMed ID: 14564165
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10394936
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 9385368
[TBL] [Abstract][Full Text] [Related]
17. Lumpers, splitters, and FGFRs.
Winter RM; Reardon W
Am J Med Genet; 1996 Jun; 63(3):501-2. PubMed ID: 8737660
[No Abstract] [Full Text] [Related]
18. [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; 146(2):63-6. PubMed ID: 11820058
[TBL] [Abstract][Full Text] [Related]
19. 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; 98(13):7182-7. PubMed ID: 11390973
[TBL] [Abstract][Full Text] [Related]
20. Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
Kan R; Twigg SR; Berg J; Wang L; Jin F; Wilkie AO
J Med Genet; 2004 Aug; 41(8):e108. PubMed ID: 15286168
[No Abstract] [Full Text] [Related]
[Next] [New Search]