These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]. van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, Herbergs J, Pals G. Ned Tijdschr Geneeskd; 2002 Jan 12; 146(2):63-6. PubMed ID: 11820058 [Abstract] [Full Text] [Related]
7. Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium. Murgue B, Tsunekawa S, Rosenberg I, deBeaumont M, Podolsky DK. Cancer Res; 1994 Oct 01; 54(19):5206-11. PubMed ID: 7923141 [Abstract] [Full Text] [Related]
14. 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 06; 14(3):289-98. PubMed ID: 16418739 [Abstract] [Full Text] [Related]
17. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. Grigelioniené G, Hagenäs L, Eklöf O, Neumeyer L, Haereid PE, Anvret M. Hum Mutat; 1998 Mar 06; 11(4):333. PubMed ID: 10215410 [Abstract] [Full Text] [Related]
18. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Logié A, Dunois-Lardé C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F. Hum Mol Genet; 2005 May 01; 14(9):1153-60. PubMed ID: 15772091 [Abstract] [Full Text] [Related]