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Journal Abstract Search

545 related items for PubMed ID: 7719345

  • 21.
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  • 22. 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; 12(3):209. PubMed ID: 14564165
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  • 23. 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; 14(3):289-98. PubMed ID: 16418739
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  • 25. A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.
    Lapunzina P, Fernández A, Sánchez Romero JM, Delicado A, Sáenz de Pipaon M, López Pajares I, Molano J.
    Birth Defects Res A Clin Mol Teratol; 2005 Jan; 73(1):61-4. PubMed ID: 15602758
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  • 26. 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; 99(5):602-6. PubMed ID: 9150725
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  • 27.
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  • 28. 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; 4(6):1077-82. PubMed ID: 7655462
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  • 31.
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  • 32. A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.
    Fujisawa H, Hasegawa M, Kida S, Yamashita J.
    J Neurosurg; 2002 Aug; 97(2):396-400. PubMed ID: 12186468
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  • 33. 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
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  • 34. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
    Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G.
    Eur J Pediatr; 2009 Sep; 168(9):1135-9. PubMed ID: 19066959
    [Abstract] [Full Text] [Related]

  • 35. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
    Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C.
    Proc Natl Acad Sci U S A; 2001 Mar 27; 98(7):3855-60. PubMed ID: 11274405
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  • 36. Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
    Chen CP, Lin SP, Su YN, Chien SC, Tsai FJ, Wang W.
    Genet Couns; 2008 Mar 27; 19(2):165-72. PubMed ID: 18618990
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  • 37. Pfeiffer syndrome type 2: further delineation and review of the literature.
    Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE.
    Am J Med Genet; 1998 Jan 23; 75(3):245-51. PubMed ID: 9475590
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  • 38. 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
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  • 39.
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  • 40. [Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
    Ishigaki M, Wada C, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.
    Rinsho Byori; 1996 May 02; 44(5):439-43. PubMed ID: 8676563
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