BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

767 related articles for article (PubMed ID: 9677057)

  • 1. 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]  

  • 2. 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. PubMed ID: 16418739
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
    Britto JA; Moore RL; Evans RD; Hayward RD; Jones BM
    J Neurosurg; 2001 Oct; 95(4):660-73. PubMed ID: 11596961
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 39.