BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 11274405)

  • 1. 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]  

  • 2. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
    Passos-Bueno MR; SertiƩ 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M; Suzuki H; Eto Y
    J Craniofac Genet Dev Biol; 1999; 19(4):183-8. PubMed ID: 10731087
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
    Wang Y; Xiao R; Yang F; Karim BO; Iacovelli AJ; Cai J; Lerner CP; Richtsmeier JT; Leszl JM; Hill CA; Yu K; Ornitz DM; Elisseeff J; Huso DL; Jabs EW
    Development; 2005 Aug; 132(15):3537-48. PubMed ID: 15975938
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
    Teebi AS; Kennedy S; Chun K; Ray PN
    Am J Med Genet; 2002 Jan; 107(1):43-7. PubMed ID: 11807866
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
    Yin L; Du X; Li C; Xu X; Chen Z; Su N; Zhao L; Qi H; Li F; Xue J; Yang J; Jin M; Deng C; Chen L
    Bone; 2008 Apr; 42(4):631-43. PubMed ID: 18242159
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
    Mathijssen IM; Vaandrager JM; Hoogeboom AJ; Hesseling-Janssen AL; van den Ouweland AM
    J Craniofac Surg; 1998 May; 9(3):207-9. PubMed ID: 9693549
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. [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]  

  • 14. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V; Srivuthana S; Ittiwut C; Theamboonlers A; Mahatumarat C; Poovorawan Y
    Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):425-8. PubMed ID: 11556600
    [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. 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]  

  • 17. The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation.
    Lemonnier J; Delannoy P; Hott M; Lomri A; Modrowski D; Marie PJ
    Exp Cell Res; 2000 Apr; 256(1):158-67. PubMed ID: 10739663
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. [Apert's syndrome: a case report].
    Doutetien C; Laleye A; Tchabi S; Biaou O; Lawani R; Deguenon J; Darboux R; Gnamey D; Bassabi SK
    J Fr Ophtalmol; 2003 Sep; 26(7):738-42. PubMed ID: 13130264
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.