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

275 related items for PubMed ID: 7795583

  • 1. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
    Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H.
    Hum Mol Genet; 1995 Mar; 4(3):323-8. PubMed ID: 7795583
    [Abstract] [Full Text] [Related]

  • 2. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
    Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S.
    Nat Genet; 1994 Nov; 8(3):269-74. PubMed ID: 7874169
    [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 07; 78(3):237-41. PubMed ID: 9677057
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
    Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.
    Hum Genet; 1997 May 07; 99(5):602-6. PubMed ID: 9150725
    [Abstract] [Full Text] [Related]

  • 7. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.
    Am J Med Genet; 1998 Jul 24; 78(4):356-60. PubMed ID: 9714439
    [Abstract] [Full Text] [Related]

  • 8. 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 24; 101(1):47-50. PubMed ID: 9385368
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
    Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.
    Nat Genet; 1994 Sep 24; 8(1):98-103. PubMed ID: 7987400
    [Abstract] [Full Text] [Related]

  • 10. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
    Hum Mol Genet; 1997 Jan 24; 6(1):137-43. PubMed ID: 9002682
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 26; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 4(8):1387-90. PubMed ID: 7581378
    [Abstract] [Full Text] [Related]

  • 14. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
    Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT.
    J Med Genet; 1998 Sep 26; 35(9):763-6. PubMed ID: 9733036
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 96(6):731-5. PubMed ID: 8522336
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 4(7):1229-33. PubMed ID: 8528214
    [Abstract] [Full Text] [Related]

  • 17. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
    Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO.
    Am J Hum Genet; 1997 Mar 26; 60(3):555-64. PubMed ID: 9042914
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 58(3):491-8. PubMed ID: 8644708
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 102(1 Suppl):23-30. PubMed ID: 16206730
    [Abstract] [Full Text] [Related]

  • 20. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 26; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.