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200 related items for PubMed ID: 28249712
1. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. Jung M, Park SH. Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712 [Abstract] [Full Text] [Related]
11. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844 [Abstract] [Full Text] [Related]
12. Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3. Jiang G, Chen X, Dai D, Cao L, Qian L. Exp Mol Pathol; 2019 Dec; 111():104297. PubMed ID: 31476288 [Abstract] [Full Text] [Related]
13. Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. Pazzaglia UE, Donzelli CM, Izzi C, Baldi M, Di Gaetano G, Bondioni M. Skeletal Radiol; 2014 Sep; 43(9):1205-15. PubMed ID: 24859745 [Abstract] [Full Text] [Related]
14. Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis. Liu YN, Li R, Li DZ. J Matern Fetal Neonatal Med; 2011 Jan; 24(1):186-8. PubMed ID: 20569165 [Abstract] [Full Text] [Related]
16. Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months. Soo-Kyeong J, Lee N, Bae MH, Han YM, Hee Park K, Byun SY. Fetal Pediatr Pathol; 2018 Oct; 37(5):363-371. PubMed ID: 30252581 [Abstract] [Full Text] [Related]
19. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E. Genet Couns; 2006 Oct; 17(4):407-12. PubMed ID: 17375526 [Abstract] [Full Text] [Related]
20. Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer. Dodurga Y, Tataroglu C, Kesen Z, Satiroglu-Tufan NL. Genet Mol Res; 2011 Jan 18; 10(1):86-95. PubMed ID: 21264819 [Abstract] [Full Text] [Related] Page: [Next] [New Search]