BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 16531735)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Beare-Stevenson cutis gyrata syndrome.
    Hall BD; Cadle RG; Golabi M; Morris CA; Cohen MM
    Am J Med Genet; 1992 Sep; 44(1):82-9. PubMed ID: 1519658
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
    Wang TJ; Huang CB; Tsai FJ; Wu JY; Lai RB; Hsiao M
    Clin Genet; 2002 Mar; 61(3):218-21. PubMed ID: 12000365
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
    Wang TJ; Hung KS; Chen PK; Chuang WL; Shih TY; Lai BJ; Hsiao M
    Acta Neurochir (Wien); 2002 Jul; 144(7):743-5. PubMed ID: 12181710
    [No Abstract]   [Full Text] [Related]  

  • 10. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
    Wenger TL; Bhoj EJ; Wetmore RF; Mennuti MT; Bartlett SP; Mollen TJ; McDonald-McGinn DM; Zackai EH
    Am J Med Genet A; 2015 Apr; 167A(4):852-7. PubMed ID: 25706251
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.
    Krepelová A; Baxová A; Calda P; Plavka R; Kapras J
    Am J Med Genet; 1998 Apr; 76(4):362-4. PubMed ID: 9545103
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
    Fonseca RF; Costa-Lima MA; Pereira ET; Castilla EE; Orioli IM
    Mol Med Rep; 2008; 1(5):753-5. PubMed ID: 21479481
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
    Slavotinek A; Crawford H; Golabi M; Tao C; Perry H; Oberoi S; Vargervik K; Friez M
    Am J Med Genet A; 2009 Aug; 149A(8):1814-7. PubMed ID: 19610084
    [No Abstract]   [Full Text] [Related]  

  • 15. A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.
    Akai T; Iizuka H; Kishibe M; Kawakami S; Kobayashi A; Ozawa T
    Pediatr Neurosurg; 2002 Aug; 37(2):97-9. PubMed ID: 12145519
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Perioperative care of a patient with Beare-Stevenson syndrome.
    Upmeyer S; Bothwell M; Tobias JD
    Paediatr Anaesth; 2005 Dec; 15(12):1131-6. PubMed ID: 16324039
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
    Ron N; Leung S; Carney E; Gerber A; David KL
    Am J Case Rep; 2016 Apr; 17():254-8. PubMed ID: 27079505
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Re: differential effects of FGFR2 mutation in ophthalmologic findings in Apert syndrome.
    Kwan MD; Wan DC; Lorenz HP; Longaker MT
    J Craniofac Surg; 2007 Mar; 18(2):459-60. PubMed ID: 17414305
    [No 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. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
    Oliveira NA; Alonso LG; Fanganiello RD; Passos-Bueno MR
    Birth Defects Res A Clin Mol Teratol; 2006 Aug; 76(8):629-33. PubMed ID: 16955501
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.