161 related articles for article (PubMed ID: 11015576)
1. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.
Winterpacht A; Hilbert K; Stelzer C; Schweikardt T; Decker H; Segerer H; Spranger J; Zabel B
Physiol Genomics; 2000 Jan; 2(1):9-12. PubMed ID: 11015576
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
Deutz-Terlouw PP; Losekoot M; Aalfs CM; Hennekam RC; Bakker E
Hum Mutat; 1998; Suppl 1():S62-5. PubMed ID: 9452043
[No Abstract] [Full Text] [Related]
5. 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]
6. A common FGFR3 gene mutation in hypochondroplasia.
Prinos P; Costa T; Sommer A; Kilpatrick MW; Tsipouras P
Hum Mol Genet; 1995 Nov; 4(11):2097-101. PubMed ID: 8589686
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE; Poggi H; Repetto G; García C; Foradori A; Cattani A
Rev Med Chil; 2003 Dec; 131(12):1405-10. PubMed ID: 15022403
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
Grigelioniené G; Hagenäs L; Eklöf O; Neumeyer L; Haereid PE; Anvret M
Hum Mutat; 1998; 11(4):333. PubMed ID: 10215410
[TBL] [Abstract][Full Text] [Related]
10. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA; Spector EB; Speiser PW; Weaver CA; Garber AT; Bryke CR; Israel J; Rosengren SS; Webster MK; Donoghue DJ; Francomano CA
Am J Hum Genet; 2000 Dec; 67(6):1411-21. PubMed ID: 11055896
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. [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]
13. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.
Li C; Chen L; Iwata T; Kitagawa M; Fu XY; Deng CX
Hum Mol Genet; 1999 Jan; 8(1):35-44. PubMed ID: 9887329
[TBL] [Abstract][Full Text] [Related]
14. Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
Angle B; Hersh JH; Christensen KM
Clin Genet; 1998 Nov; 54(5):417-20. PubMed ID: 9842995
[TBL] [Abstract][Full Text] [Related]
15. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S; Le Merrer M; Zabel B; Wright M; Legeai-Mallet L; Cormier-Daire V; Gibbs L; Bonaventure J
Eur J Hum Genet; 2006 Dec; 14(12):1240-7. PubMed ID: 16912704
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.
Fofanova OV; Takamura N; Kinoshita E; Meerson EM; Iljina VK; Nechvolodova OL; Evgrafov OV; Peterkova VA; Yamashita S
Endocr J; 1998 Dec; 45(6):791-5. PubMed ID: 10395236
[TBL] [Abstract][Full Text] [Related]
19. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Meyers GA; Orlow SJ; Munro IR; Przylepa KA; Jabs EW
Nat Genet; 1995 Dec; 11(4):462-4. PubMed ID: 7493034
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
