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Journal Abstract Search

214 related items for PubMed ID: 13130264

  • 1. [Apert's syndrome: a case report].
    Doutetien C, Laleye A, Tchabi S, Biaou O, Lawani R, Deguenon J, Darboux R, Gnamey D, Bassabi SK.
    J Fr Ophtalmol; 2003 Sep; 26(7):738-42. PubMed ID: 13130264
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  • 2. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.
    Eur J Hum Genet; 2005 Apr; 13(4):503-5. PubMed ID: 15523492
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  • 3. Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
    Mathijssen IM, Vaandrager JM, Hoogeboom AJ, Hesseling-Janssen AL, van den Ouweland AM.
    J Craniofac Surg; 1998 May; 9(3):207-9. PubMed ID: 9693549
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  • 4. Clinical variability in patients with Apert's syndrome.
    Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D.
    J Neurosurg; 1999 Mar; 90(3):443-7. PubMed ID: 10067911
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  • 6. [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
    Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.
    Rinsho Byori; 1996 May; 44(5):435-8. PubMed ID: 8676562
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  • 7. Apert's syndrome: ophthalmic importance and clinical findings.
    Caça I, Caça FN, Sakalar YB, Erdem S, Alakus F, Ciftci S, Dogan E.
    Ann Ophthalmol (Skokie); 2009 May; 41(1):44-6. PubMed ID: 19413227
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  • 8. 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; 14(2):174-6. PubMed ID: 8841188
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  • 9. [A case of Apert's syndrome].
    Spada A, Pejrone F.
    Arch Sci Med (Torino); 1969 Apr; 126(4):201-5. PubMed ID: 17342891
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  • 12. 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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  • 13. 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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  • 19. 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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  • 20. 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
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