287 related articles for article (PubMed ID: 9048930)
1. 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. PubMed ID: 9048930
[TBL] [Abstract][Full Text] [Related]
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; 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]
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; 78(3):237-41. PubMed ID: 9677057
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 8528214
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
7. 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]
8. 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]
9. 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; 66(1):81-6. PubMed ID: 8957519
[TBL] [Abstract][Full Text] [Related]
10. Molecular diagnosis of bilateral coronal synostosis.
Mulliken JB; Steinberger D; Kunze S; Müller U
Plast Reconstr Surg; 1999 Nov; 104(6):1603-15. PubMed ID: 10541159
[TBL] [Abstract][Full Text] [Related]
11. 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; 102(3):282-5. PubMed ID: 11484208
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.
Jang JH; Shin KH; Park JG
Cancer Res; 2001 May; 61(9):3541-3. PubMed ID: 11325814
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
