Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I - PubMed (original) (raw)

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

P L Tavormina et al. Hum Mol Genet. 1995 Nov.

No abstract available

PubMed Disclaimer

Similar articles

• Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
  Tsai FJ, Tsai CH, Chang JG, Wu JY. Tsai FJ, et al. Am J Med Genet. 1999 Sep 17;86(3):300-1. Am J Med Genet. 1999. PMID: 10482885 No abstract available.
• Thanatophoric dysplasia type I with syndactyly.
  Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR. Brodie SG, et al. Am J Med Genet. 1998 Nov 16;80(3):260-2. doi: 10.1002/(sici)1096-8628(19981116)80:3<260::aid-ajmg15>3.0.co;2-s. Am J Med Genet. 1998. PMID: 9843049
• Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
  Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Rousseau F, et al. Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11. Nat Genet. 1995. PMID: 7647778 No abstract available.
• Fibroblast growth factor receptor 3 and the human chondrodysplasias.
  Horton WA. Horton WA. Curr Opin Pediatr. 1997 Aug;9(4):437-42. doi: 10.1097/00008480-199708000-00021. Curr Opin Pediatr. 1997. PMID: 9300204 Review.
• [Thanatophoric dysplasia].
  Tonoki H. Tonoki H. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):294-5. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057234 Review. Japanese. No abstract available.

Cited by

• Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation.
  Rosty C, Aubriot MH, Cappellen D, Bourdin J, Cartier I, Thiery JP, Sastre-Garau X, Radvanyi F. Rosty C, et al. Mol Cancer. 2005 May 3;4(1):15. doi: 10.1186/1476-4598-4-15. Mol Cancer. 2005. PMID: 15869706 Free PMC article.
• A case of thanatophoric dysplasia type 2: a novel mutation.
  Gülaşı S, Atıcı A, Çelik Y. Gülaşı S, et al. J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):73-6. doi: 10.4274/jcrpe.1703. J Clin Res Pediatr Endocrinol. 2015. PMID: 25800480 Free PMC article.
• Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.
  Wilkie AO. Wilkie AO. Indian J Pediatr. 1996 May-Jun;63(3):351-6. doi: 10.1007/BF02751527. Indian J Pediatr. 1996. PMID: 10830010 Review.
• Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.
  Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. Hafner C, et al. J Clin Invest. 2006 Aug;116(8):2201-2207. doi: 10.1172/JCI28163. J Clin Invest. 2006. PMID: 16841094 Free PMC article.
• Molecular genesis of non-muscle-invasive urothelial carcinoma (NMIUC).
  Pollard C, Smith SC, Theodorescu D. Pollard C, et al. Expert Rev Mol Med. 2010 Mar 25;12:e10. doi: 10.1017/S1462399410001407. Expert Rev Mol Med. 2010. PMID: 20334706 Free PMC article. Review.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Silverchair Information Systems

• Other Literature Sources

  • The Lens - Patent Citations Database

• Molecular Biology Databases

  • GlyGen glycoinformatics resource