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Journal Abstract Search

144 related items for PubMed ID: 11746040

  • 1.
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  • 2. 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
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  • 4. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
    Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO.
    Lancet; 1997 Apr 12; 349(9058):1059-62. PubMed ID: 9107244
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  • 5. 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 12; 29(1):22-4. PubMed ID: 11467490
    [Abstract] [Full Text] [Related]

  • 6. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
    Thomas GP, Wilkie AO, Richards PG, Wall SA.
    J Craniofac Surg; 2005 May 12; 16(3):347-52; discussion 353-4. PubMed ID: 15915095
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  • 8. Muenke syndrome.
    Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C.
    Childs Nerv Syst; 2004 May 12; 20(5):297-301. PubMed ID: 14963686
    [Abstract] [Full Text] [Related]

  • 9. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
    Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D.
    J Med Genet; 1999 Jan 12; 36(1):9-13. PubMed ID: 9950359
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  • 10. Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
    Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M.
    J Pediatr; 1998 Apr 12; 132(4):714-6. PubMed ID: 9580776
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  • 11. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
    J Med Genet; 1997 Aug 12; 34(8):632-6. PubMed ID: 9279753
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  • 12. Muenke syndrome: An international multicenter natural history study.
    Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M.
    Am J Med Genet A; 2016 Apr 12; 170A(4):918-29. PubMed ID: 26740388
    [Abstract] [Full Text] [Related]

  • 13. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
    Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.
    J Matern Fetal Neonatal Med; 2014 Sep 12; 27(14):1502-6. PubMed ID: 24168007
    [Abstract] [Full Text] [Related]

  • 14. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
    Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3204-15. PubMed ID: 18000976
    [Abstract] [Full Text] [Related]

  • 15. [A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene].
    Mori F, Kuwajima K, Yamanaka K, Kondou I.
    No To Hattatsu; 2001 Jan 15; 33(1):53-7. PubMed ID: 11197897
    [Abstract] [Full Text] [Related]

  • 16. Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.
    Cassileth LB, Bartlett SP, Glat PM, Gripp KW, Muenke M, Zackai EH, Whitaker LA.
    Plast Reconstr Surg; 2001 Dec 15; 108(7):1849-54. PubMed ID: 11743367
    [Abstract] [Full Text] [Related]

  • 17. Craniosynostosis and Klippel-Feil syndrome: a rare association.
    Chattopadhyay A, Shah AM, Kher A, Bharucha BA, Karapurkar AP.
    Indian J Pediatr; 1996 Dec 15; 63(6):819-22. PubMed ID: 10830068
    [No Abstract] [Full Text] [Related]

  • 18. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
    Tsai FJ, Wu JY, Lee CC, Tsa CH.
    Acta Paediatr; 2000 Jun 15; 89(6):672-4. PubMed ID: 10914960
    [Abstract] [Full Text] [Related]

  • 19. Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
    González-Del Angel A, Estandía-Ortega B, Alcántara-Ortigoza MA, Martínez-Cruz V, Gutiérrez-Tinajero DJ, Rasmussen A, Gómez-González CS.
    Am J Med Genet A; 2016 Dec 15; 170(12):3189-3196. PubMed ID: 27568649
    [Abstract] [Full Text] [Related]

  • 20. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
    Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E.
    J Neurosurg; 2000 Apr 15; 92(4):631-6. PubMed ID: 10761652
    [Abstract] [Full Text] [Related]

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