374 related articles for article (PubMed ID: 7773297)
1. 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]
2. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
Wilcox WR; Tavormina PL; Krakow D; Kitoh H; Lachman RS; Wasmuth JJ; Thompson LM; Rimoin DL
Am J Med Genet; 1998 Jul; 78(3):274-81. PubMed ID: 9677066
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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. 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]
7. 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]
8. [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]
9. An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys).
Camera G; Baldi M; Baffico M; Pozzolo S
Am J Med Genet; 1997 Jul; 71(1):122-3. PubMed ID: 9215781
[No Abstract] [Full Text] [Related]
10. 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]
11. Thanatophoric dysplasia type I.
Chang TK; Wang Y; Liu AM; Tung JC
Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Thanatophoric dysplasia type I with syndactyly.
Brodie SG; Kitoh H; Lipson M; Sifry-Platt M; Wilcox WR
Am J Med Genet; 1998 Nov; 80(3):260-2. PubMed ID: 9843049
[TBL] [Abstract][Full Text] [Related]
14. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Tavormina PL; Rimoin DL; Cohn DH; Zhu YZ; Shiang R; Wasmuth JJ
Hum Mol Genet; 1995 Nov; 4(11):2175-7. PubMed ID: 8589699
[No Abstract] [Full Text] [Related]
15. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL; Bellus GA; Webster MK; Bamshad MJ; Fraley AE; McIntosh I; Szabo J; Jiang W; Jabs EW; Wilcox WR; Wasmuth JJ; Donoghue DJ; Thompson LM; Francomano CA
Am J Hum Genet; 1999 Mar; 64(3):722-31. PubMed ID: 10053006
[TBL] [Abstract][Full Text] [Related]
16. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
Nerlich AG; Freisinger P; Bonaventure J
Am J Med Genet; 1996 May; 63(1):155-60. PubMed ID: 8723102
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP; Chern SR; Shih JC; Wang W; Yeh LF; Chang TY; Tzen CY
Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]