BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 16061565)

  • 1. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
    McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJ; Lamandé SR
    J Med Genet; 2005 Aug; 42(8):656-62. PubMed ID: 16061565
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
    Sureka D; Hudgins L
    J Craniofac Surg; 2010 Sep; 21(5):1346-9. PubMed ID: 20856019
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
    Park J; Park OJ; Yoon WJ; Kim HJ; Choi KY; Cho TJ; Ryoo HM
    J Cell Biochem; 2012 Feb; 113(2):457-64. PubMed ID: 21928350
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
    Ito S; Sekido K; Kanno H; Sato H; Tanaka M; Yamaguchi K; Yamamoto I
    J Neurosurg; 2005 Jan; 102(1 Suppl):23-30. PubMed ID: 16206730
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Syndromic craniosynostosis with elbow joint contracture.
    Akai T; Yamamoto K; Iizuka H; Kawakami S; Yoshida J; Kakinuma H; Yaguchi Y; Ozawa T
    Pediatr Neurosurg; 2006; 42(2):108-12. PubMed ID: 16465081
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
    Fonseca R; Costa-Lima MA; Cosentino V; Orioli IM
    Am J Med Genet A; 2008 Mar; 146A(5):658-60. PubMed ID: 18247426
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
    Muenke M; Schell U; Hehr A; Robin NH; Losken HW; Schinzel A; Pulleyn LJ; Rutland P; Reardon W; Malcolm S
    Nat Genet; 1994 Nov; 8(3):269-74. PubMed ID: 7874169
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
    Hughes J; Nevin NC; Morrison PJ
    Ulster Med J; 2001 May; 70(1):47-50. PubMed ID: 11428324
    [No Abstract]   [Full Text] [Related]  

  • 13. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
    Eun SH; Ha KS; Je BK; Lee ES; Choi BM; Lee JH; Eun BL; Yoo KH
    J Korean Med Sci; 2007 Apr; 22(2):352-6. PubMed ID: 17449949
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
    Chun K; Siegel-Bartelt J; Chitayat D; Phillips J; Ray PN
    Am J Med Genet; 1998 May; 77(3):219-24. PubMed ID: 9605588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutations in different components of FGF signaling in LADD syndrome.
    Rohmann E; Brunner HG; Kayserili H; Uyguner O; Nürnberg G; Lew ED; Dobbie A; Eswarakumar VP; Uzumcu A; Ulubil-Emeroglu M; Leroy JG; Li Y; Becker C; Lehnerdt K; Cremers CW; Yüksel-Apak M; Nürnberg P; Kubisch C; Schlessinger J; van Bokhoven H; Wollnik B
    Nat Genet; 2006 Apr; 38(4):414-7. PubMed ID: 16501574
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
    Barge-Schaapveld DQ; Brooks AS; Lequin MH; van Spaendonk R; Vermeulen RJ; Cobben JM
    Pediatr Neurol; 2011 Apr; 44(4):303-7. PubMed ID: 21397175
    [TBL] [Abstract][Full Text] [Related]  

  • 19. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
    Wang Y; Zhou X; Oberoi K; Phelps R; Couwenhoven R; Sun M; Rezza A; Holmes G; Percival CJ; Friedenthal J; Krejci P; Richtsmeier JT; Huso DL; Rendl M; Jabs EW
    J Clin Invest; 2012 Jun; 122(6):2153-64. PubMed ID: 22585574
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
    McGaughran J; Sinnott S; Susman R; Buckley MF; Elakis G; Cox T; Roscioli T
    Clin Dysmorphol; 2006 Apr; 15(2):89-93. PubMed ID: 16531735
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.