These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

295 related items for PubMed ID: 8528214

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 78(3):237-41. PubMed ID: 9677057
    [Abstract] [Full Text] [Related]

  • 5. 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 07; 101(1):47-50. PubMed ID: 9385368
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 8(3):275-9. PubMed ID: 7874170
    [Abstract] [Full Text] [Related]

  • 7. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb 07; 99(2):251-5. PubMed ID: 9048930
    [Abstract] [Full Text] [Related]

  • 8. 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 07; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 9. 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 07; 14(3):289-98. PubMed ID: 16418739
    [Abstract] [Full Text] [Related]

  • 10. 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 02; 66(1):81-6. PubMed ID: 8957519
    [Abstract] [Full Text] [Related]

  • 11. 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 02; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

  • 12. 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 Dec 02; 91(1-4):134-7. PubMed ID: 11173845
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 14. A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
    Everett ET, Britto DA, Ward RE, Hartsfield JK.
    Cleft Palate Craniofac J; 1999 Nov 02; 36(6):533-41. PubMed ID: 10574673
    [Abstract] [Full Text] [Related]

  • 15. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
    Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.
    Am J Hum Genet; 2000 Mar 02; 66(3):768-77. PubMed ID: 10712195
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 13(4):492-4. PubMed ID: 8696350
    [Abstract] [Full Text] [Related]

  • 17. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
    Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM.
    Hum Mol Genet; 1995 Jun 02; 4(6):1077-82. PubMed ID: 7655462
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 19. No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
    Ma HW, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D.
    Hum Genet; 1995 Dec 02; 96(6):731-5. PubMed ID: 8522336
    [Abstract] [Full Text] [Related]

  • 20. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 02; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 15.