BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

652 related articles for article (PubMed ID: 24656465)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; McGaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; McGillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF
    Am J Med Genet C Semin Med Genet; 2013 Nov; 163C(4):259-70. PubMed ID: 24127277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
    Piccione M; Antona V; Niceta M; Fabiano C; Martines M; Bianchi A; Corsello G
    Eur J Pediatr; 2009 Sep; 168(9):1135-9. PubMed ID: 19066959
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fibroblast Growth Factor Receptor 2 (
    Azoury SC; Reddy S; Shukla V; Deng CX
    Int J Biol Sci; 2017; 13(12):1479-1488. PubMed ID: 29230096
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [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]  

  • 13. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B; Nagy A; Szakszon K; Mokánszki A; Balogh E; Ujfalusi A; Tihanyi M; Novák L; Bognár L; Oláh É
    Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly.
    Assadsangabi R; Hajmomenian M; Bilaniuk LT; Vossough A
    Childs Nerv Syst; 2015 May; 31(5):735-41. PubMed ID: 25686894
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
    Agochukwu NB; Solomon BD; Muenke M
    Int J Pediatr Otorhinolaryngol; 2014 Dec; 78(12):2037-47. PubMed ID: 25441602
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Syndromic craniosynostosis: from history to hydrogen bonds.
    Cunningham ML; Seto ML; Ratisoontorn C; Heike CL; Hing AV
    Orthod Craniofac Res; 2007 May; 10(2):67-81. PubMed ID: 17552943
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.