129 related articles for article (PubMed ID: 8858131)
1. Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
Pokharel RK; Alimsardjono H; Takeshima Y; Nakamura H; Naritomi K; Hirose S; Onishi S; Matsuo M
Biochem Biophys Res Commun; 1996 Oct; 227(1):236-9. PubMed ID: 8858131
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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
Nat Genet; 1995 May; 10(1):11-2. PubMed ID: 7647778
[No Abstract] [Full Text] [Related]
5. 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
Am J Med Genet; 1999 Sep; 86(3):300-1. PubMed ID: 10482885
[No Abstract] [Full Text] [Related]
6. [Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
Kruczek A; Kruczek P; Mitkowska Z; Pietrzyk JJ
Przegl Lek; 2002; 59 Suppl 1():137-9. PubMed ID: 12108063
[TBL] [Abstract][Full Text] [Related]
7. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
d'Avis PY; Robertson SC; Meyer AN; Bardwell WM; Webster MK; Donoghue DJ
Cell Growth Differ; 1998 Jan; 9(1):71-8. PubMed ID: 9438390
[TBL] [Abstract][Full Text] [Related]
8. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
Yang Y; Li DZ
Fetal Diagn Ther; 2009; 26(2):90-2. PubMed ID: 19752524
[TBL] [Abstract][Full Text] [Related]
9. 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; 17(4):407-12. PubMed ID: 17375526
[TBL] [Abstract][Full Text] [Related]
10. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
Adar R; Monsonego-Ornan E; David P; Yayon A
J Bone Miner Res; 2002 May; 17(5):860-8. PubMed ID: 12009017
[TBL] [Abstract][Full Text] [Related]
11. An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
Tsai FJ; Tsai LP; Lin SP; Tsai CH; Peng CT; Wang TR; Lee CC; Wu JY
Acta Paediatr Taiwan; 1999; 40(4):262-4. PubMed ID: 10910625
[TBL] [Abstract][Full Text] [Related]
12. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
Yang Y; Liu YN; Li DZ
Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
[TBL] [Abstract][Full Text] [Related]
13. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
van Rhijn BW; van Tilborg AA; Lurkin I; Bonaventure J; de Vries A; Thiery JP; van der Kwast TH; Zwarthoff EC; Radvanyi F
Eur J Hum Genet; 2002 Dec; 10(12):819-24. PubMed ID: 12461689
[TBL] [Abstract][Full Text] [Related]
14. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.
Su WC; Kitagawa M; Xue N; Xie B; Garofalo S; Cho J; Deng C; Horton WA; Fu XY
Nature; 1997 Mar; 386(6622):288-92. PubMed ID: 9069288
[TBL] [Abstract][Full Text] [Related]
15. Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.
Cormier S; Delezoide AL; Benoist-Lasselin C; Legeai-Mallet L; Bonaventure J; Silve C
Am J Pathol; 2002 Oct; 161(4):1325-35. PubMed ID: 12368206
[TBL] [Abstract][Full Text] [Related]
16. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Tavormina PL; Shiang R; Thompson LM; Zhu YZ; Wilkin DJ; Lachman RS; Wilcox WR; Rimoin DL; Cohn DH; Wasmuth JJ
Nat Genet; 1995 Mar; 9(3):321-8. PubMed ID: 7773297
[TBL] [Abstract][Full Text] [Related]
17. Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
Kitoh H; Brodie SG; Kupke KG; Lachman RS; Wilcox WR
Hum Mutat; 1998; 12(5):362-3. PubMed ID: 10671061
[TBL] [Abstract][Full Text] [Related]
18. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N; Kuno T; Miyazaki S; Mikami S; Nagashima-Miyokawa A; Nimura A; Horikawa R; Tanaka T
Endocr J; 1998 Apr; 45 Suppl():S171-4. PubMed ID: 9790257
[TBL] [Abstract][Full Text] [Related]
19. Long-term survival in typical thanatophoric dysplasia type 1.
Baker KM; Olson DS; Harding CO; Pauli RM
Am J Med Genet; 1997 Jun; 70(4):427-36. PubMed ID: 9182787
[TBL] [Abstract][Full Text] [Related]
20. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
Am J Med Genet; 1996 May; 63(1):148-54. PubMed ID: 8723101
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]