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6. Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. Sargar KM; Singh AK; Kao SC Radiographics; 2017 Oct; 37(6):1813-1830. PubMed ID: 29019756 [TBL] [Abstract][Full Text] [Related]
7. [Fibroblast growth factor receptors and hereditary abnormalities of bone growth]. Bonaventure J; Rousseau F; Legeai-Mallet L; Benoist-Lasselin C; Le Merrer M; Munnich A Arch Pediatr; 1997; 4(2 Suppl 2):112s-117s. PubMed ID: 9246316 [No Abstract] [Full Text] [Related]
8. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Vajo Z; Francomano CA; Wilkin DJ Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568 [TBL] [Abstract][Full Text] [Related]
10. Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. Alderborn A; Anvret M; Gustavson KH; Hagenäs L; Wadelius C Acta Paediatr; 1996 Dec; 85(12):1506-7. PubMed ID: 9001669 [TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. van Ravenswaaij-Arts CM; Losekoot M Ned Tijdschr Geneeskd; 2001 Jun; 145(22):1056-9. PubMed ID: 11414167 [TBL] [Abstract][Full Text] [Related]
12. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477 [TBL] [Abstract][Full Text] [Related]
13. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. Webster MK; Donoghue DJ EMBO J; 1996 Feb; 15(3):520-7. PubMed ID: 8599935 [TBL] [Abstract][Full Text] [Related]
15. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population]. Ezquieta Zubicaray B; Iguacel AO; Varela Junquera JM; Jariego Fente CM; González Gancedo P; Gracia Bouthelier R Med Clin (Barc); 1999 Mar; 112(8):290-3. PubMed ID: 10207844 [TBL] [Abstract][Full Text] [Related]
16. [Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)]. Rousseau F; Bonaventure J; Le Merrer M; Munnich A Ann Endocrinol (Paris); 1996; 57(3):151-2. PubMed ID: 8949407 [No Abstract] [Full Text] [Related]
17. Achondroplasia and nail-patella syndrome: the compound phenotype. Wright MJ; Ain MC; Clough MV; Bellus GA; Hurko O; McIntosh I J Med Genet; 2000 Sep; 37(9):E25. PubMed ID: 10978372 [No Abstract] [Full Text] [Related]
18. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Superti-Furga A; Eich G; Bucher HU; Wisser J; Giedion A; Gitzelmann R; Steinmann B Eur J Pediatr; 1995 Mar; 154(3):215-9. PubMed ID: 7758520 [TBL] [Abstract][Full Text] [Related]
19. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Naski MC; Wang Q; Xu J; Ornitz DM Nat Genet; 1996 Jun; 13(2):233-7. PubMed ID: 8640234 [TBL] [Abstract][Full Text] [Related]
20. Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. Pehlivan S; Ozkinay F; Okutman O; Coğulu O; Ozcan A; Cankaya T; Ulgenalp A Turk J Pediatr; 2003; 45(2):99-101. PubMed ID: 12921294 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]