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129 related items for PubMed ID: 11197897
1. [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; 33(1):53-7. PubMed ID: 11197897 [Abstract] [Full Text] [Related]
2. 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; 36(1):9-13. PubMed ID: 9950359 [Abstract] [Full Text] [Related]
3. 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]
4. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S. J Med Genet; 1997 Aug 26; 34(8):683-4. PubMed ID: 9279764 [Abstract] [Full Text] [Related]
5. [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. Reinhart E, Eulert S, Bill J, Würzler K, Phan The L, Reuther J. Mund Kiefer Gesichtschir; 2003 May 26; 7(3):132-7. PubMed ID: 12764678 [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 26; 16(3):347-52; discussion 353-4. PubMed ID: 15915095 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. Sudden infant death in a patient with FGFR3 P250R mutation. Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D. Am J Med Genet A; 2006 Dec 15; 140(24):2794-6. PubMed ID: 17103449 [Abstract] [Full Text] [Related]
9. 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 15; 29(1):22-4. PubMed ID: 11467490 [Abstract] [Full Text] [Related]
10. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel J, Lewandowski R, Hyland V, Glass IA. Am J Med Genet; 2001 Jul 01; 101(3):187-94. PubMed ID: 11424131 [Abstract] [Full Text] [Related]
11. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Am J Med Genet; 2001 Nov 22; 104(2):112-9. PubMed ID: 11746040 [Abstract] [Full Text] [Related]
12. 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 22; 60(3):555-64. PubMed ID: 9042914 [Abstract] [Full Text] [Related]
13. 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 22; 92(4):631-6. PubMed ID: 10761652 [Abstract] [Full Text] [Related]
14. 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 22; 70(1):47-50. PubMed ID: 11428324 [No Abstract] [Full Text] [Related]
15. 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 22; 34(8):632-6. PubMed ID: 9279753 [Abstract] [Full Text] [Related]
16. 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 22; 89(6):672-4. PubMed ID: 10914960 [Abstract] [Full Text] [Related]
17. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO. Hum Genet; 2004 Aug 22; 115(3):200-7. PubMed ID: 15241680 [Abstract] [Full Text] [Related]
18. Muenke syndrome. Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Childs Nerv Syst; 2004 May 22; 20(5):297-301. PubMed ID: 14963686 [Abstract] [Full Text] [Related]
19. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U. Plast Reconstr Surg; 2004 Jun 22; 113(7):1899-909. PubMed ID: 15253176 [Abstract] [Full Text] [Related]
20. [On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]. Preising MN, Schindler S, Friedrich M, Wagener H, Golan I, Lorenz B. Klin Monbl Augenheilkd; 2003 Oct 22; 220(10):669-81. PubMed ID: 14577033 [Abstract] [Full Text] [Related] Page: [Next] [New Search]