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Journal Abstract Search

155 related items for PubMed ID: 11428324

  • 1. 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]

  • 2. Partial craniosynostosis in a patient with deletion 22q11.
    Karteszi J, Kress W, Szasz M, Czako M, Melegh B, Kosztolanyi GY, Morava E.
    Genet Couns; 2004 May; 15(4):481-3. PubMed ID: 15658627
    [No Abstract] [Full Text] [Related]

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  • 4. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
    Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.
    Am J Med Genet; 1998 May 26; 77(4):322-9. PubMed ID: 9600744
    [Abstract] [Full Text] [Related]

  • 5. 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 26; 12(3):209. PubMed ID: 14564165
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 14(2):174-6. PubMed ID: 8841188
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  • 9. No association between DFNA6 and Pro250Arg mutation in FGFR3.
    Bespalova IN, Burmeister M, Lesperance MM.
    Am J Med Genet; 1999 Oct 15; 88(5):451. PubMed ID: 10490695
    [No Abstract] [Full Text] [Related]

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  • 12. Not Antley-Bixler syndrome.
    Gripp KW, Zackai EH, Cohen MM.
    Am J Med Genet; 1999 Mar 05; 83(1):65-8. PubMed ID: 10076887
    [No Abstract] [Full Text] [Related]

  • 13. Fibroblast growth factor receptor-2 mutations in craniosynostosis.
    Malcolm S, Reardon W.
    Ann N Y Acad Sci; 1996 Jun 08; 785():164-70. PubMed ID: 8702123
    [No Abstract] [Full Text] [Related]

  • 14. [Antley-Bixler syndrome].
    Satokata I.
    Ryoikibetsu Shokogun Shirizu; 2000 Jun 08; (30 Pt 5):133-5. PubMed ID: 11057168
    [No Abstract] [Full Text] [Related]

  • 15. Patient described by Chun et al. may not present Antley-Bixler syndrome.
    Gorlin RJ.
    Am J Med Genet; 1999 Mar 05; 83(1):64. PubMed ID: 10076886
    [No Abstract] [Full Text] [Related]

  • 16. Craniosynostosis and chromosome 22q11 deletion.
    Dean JC, De Silva DC, Reardon W.
    J Med Genet; 1998 Apr 05; 35(4):346; author reply 347. PubMed ID: 9598736
    [No Abstract] [Full Text] [Related]

  • 17. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
    Moko SB, Blandin de Chalain TM.
    J Craniomaxillofac Surg; 2001 Feb 05; 29(1):22-4. PubMed ID: 11467490
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 76(4):362-4. PubMed ID: 9545103
    [No Abstract] [Full Text] [Related]

  • 19. Nonpenetrance in FGFR3-associated coronal synostosis syndrome.
    Robin NH, Scott JA, Cohen AR, Goldstein JA.
    Am J Med Genet; 1998 Nov 16; 80(3):296-7. PubMed ID: 9843059
    [No Abstract] [Full Text] [Related]

  • 20. 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]

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