197 related articles for article (PubMed ID: 9300204)
1. Fibroblast growth factor receptor 3 and the human chondrodysplasias.
Horton WA
Curr Opin Pediatr; 1997 Aug; 9(4):437-42. PubMed ID: 9300204
[TBL] [Abstract][Full Text] [Related]
2. [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
Rousseau F; Bonaventure J; Le Merrer M; Maroteaux P; Munnich A
Ann Endocrinol (Paris); 1996; 57(3):153. PubMed ID: 8949408
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. [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]
6. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
Acta Paediatr Suppl; 1996 Oct; 417():33-8. PubMed ID: 9055906
[TBL] [Abstract][Full Text] [Related]
9. Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
Nguyen HB; Estacion M; Gargus JJ
Hum Mol Genet; 1997 May; 6(5):681-8. PubMed ID: 9158142
[TBL] [Abstract][Full Text] [Related]
10. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
Cohen MM
Int J Oral Maxillofac Surg; 1998 Dec; 27(6):451-5. PubMed ID: 9869286
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Some chondrodysplasias with short limbs: molecular perspectives.
Cohen MM
Am J Med Genet; 2002 Oct; 112(3):304-13. PubMed ID: 12357475
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
Iwata T; Li CL; Deng CX; Francomano CA
Hum Mol Genet; 2001 Jun; 10(12):1255-64. PubMed ID: 11406607
[TBL] [Abstract][Full Text] [Related]
15. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
Chen CP; Chern SR; Wang W; Wang TY
Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
[No Abstract] [Full Text] [Related]
16. 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]
17. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
Chen L; Li C; Qiao W; Xu X; Deng C
Hum Mol Genet; 2001 Mar; 10(5):457-65. PubMed ID: 11181569
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia].
Moskalewski S; Hyc A; Osiecka-Iwan A; Strzelczyk P
Chir Narzadow Ruchu Ortop Pol; 2000; 65(3):327-33. PubMed ID: 11057021
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]