567 related articles for article (PubMed ID: 11820058)
21. 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; Jabs EW
Nat Genet; 1996 Aug; 13(4):492-4. PubMed ID: 8696350
[TBL] [Abstract][Full Text] [Related]
22. 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. PubMed ID: 24656465
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
Hajihosseini MK; Wilson S; De Moerlooze L; Dickson C
Proc Natl Acad Sci U S A; 2001 Mar; 98(7):3855-60. PubMed ID: 11274405
[TBL] [Abstract][Full Text] [Related]
25. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
Okajima K; Robinson LK; Hart MA; Abuelo DN; Cowan LS; Hasegawa T; Maumenee IH; Jabs EW
Am J Med Genet; 1999 Jul; 85(2):160-70. PubMed ID: 10406670
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
Galvin BD; Hart KC; Meyer AN; Webster MK; Donoghue DJ
Proc Natl Acad Sci U S A; 1996 Jul; 93(15):7894-9. PubMed ID: 8755573
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 7581378
[TBL] [Abstract][Full Text] [Related]
29. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Oldridge M; Lunt PW; Zackai EH; McDonald-McGinn DM; Muenke M; Moloney DM; Twigg SR; Heath JK; Howard TD; Hoganson G; Gagnon DM; Jabs EW; Wilkie AO
Hum Mol Genet; 1997 Jan; 6(1):137-43. PubMed ID: 9002682
[TBL] [Abstract][Full Text] [Related]
30. 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. PubMed ID: 7493034
[TBL] [Abstract][Full Text] [Related]
31. 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; 131(3):299-300. PubMed ID: 15523615
[TBL] [Abstract][Full Text] [Related]
32. [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. PubMed ID: 8676562
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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. PubMed ID: 8528214
[TBL] [Abstract][Full Text] [Related]
35. Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.
Fragale A; Tartaglia M; Bernardini S; Di Stasi AM; Di Rocco C; Velardi F; Teti A; Battaglia PA; Migliaccio S
Am J Pathol; 1999 May; 154(5):1465-77. PubMed ID: 10329600
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
Matsumoto K; Urano Y; Kubo Y; Nakanishi H; Arase S
Plast Reconstr Surg; 1998 Feb; 101(2):307-11. PubMed ID: 9462761
[TBL] [Abstract][Full Text] [Related]
38. Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2.
Mangasarian K; Li Y; Mansukhani A; Basilico C
J Cell Physiol; 1997 Jul; 172(1):117-25. PubMed ID: 9207932
[TBL] [Abstract][Full Text] [Related]
39. Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR; Wilcox WR; Jabs EW; Sertié AL; Alonso LG; Kitoh H
Hum Mutat; 1999; 14(2):115-25. PubMed ID: 10425034
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 9150725
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]