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Journal Abstract Search

246 related items for PubMed ID: 11556600

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  • 2. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
    Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF.
    Nat Genet; 1995 Feb; 9(2):173-6. PubMed ID: 7719345
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  • 6. 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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  • 7. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
    Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P.
    Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
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  • 8. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M, Suzuki H, Eto Y.
    J Craniofac Genet Dev Biol; 1999 Feb; 19(4):183-8. PubMed ID: 10731087
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  • 13. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
    Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J.
    Clin Genet; 2005 Aug; 68(2):179-81. PubMed ID: 15996217
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  • 14. 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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  • 15. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
    J Craniofac Surg; 2013 Jan; 24(1):150-2. PubMed ID: 23348274
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  • 16. Prenatal diagnosis of Pfeiffer syndrome type II.
    Blaumeiser B, Loquet P, Wuyts W, Nöthen MM.
    Prenat Diagn; 2004 Aug; 24(8):644-6. PubMed ID: 15305355
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  • 17. 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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  • 19. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
    Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.
    Birth Defects Res A Clin Mol Teratol; 2006 Aug 23; 76(8):629-33. PubMed ID: 16955501
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  • 20. 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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