145 related articles for article (PubMed ID: 10777366)
1. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Mortier G; Nuytinck L; Craen M; Renard JP; Leroy JG; de Paepe A
J Med Genet; 2000 Mar; 37(3):220-4. PubMed ID: 10777366
[No 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 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]
4. Genotype phenotype correlation in achondroplasia and hypochondroplasia.
Matsui Y; Yasui N; Kimura T; Tsumaki N; Kawabata H; Ochi T
J Bone Joint Surg Br; 1998 Nov; 80(6):1052-6. PubMed ID: 9853502
[TBL] [Abstract][Full Text] [Related]
5. Atypical achondroplasia.
Gorlin RJ
Am J Med Genet; 1997 May; 70(2):202; author reply 203-5. PubMed ID: 9128943
[No Abstract] [Full Text] [Related]
6. 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]
7. Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C; Faivre L; Lewin P; De Monléon JV; François C; Huet F; Couailler JF; Campos-Xavier AB; Bonaventure J; Le Merrer M
Am J Med Genet A; 2003 May; 119A(1):81-4. PubMed ID: 12707965
[No 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. FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.
Yan-Ling G; Ji-Hong N; Guo-Qiang L; Wei W; De-Fen W
Horm Res; 1998; 49 Suppl 1():57. PubMed ID: 9554479
[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. Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.
Grigelioniené G; Eklöf O; Laurencikas E; Ollars B; Hertel NT; Dumanski JP; Hagenäs L
Acta Paediatr; 2000 Sep; 89(9):1072-6. PubMed ID: 11071087
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. 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]
14. Achondroplasia-hypochondroplasia complex in a newborn infant.
Huggins MJ; Smith JR; Chun K; Ray PN; Shah JK; Whelan DT
Am J Med Genet; 1999 Jun; 84(5):396-400. PubMed ID: 10360392
[TBL] [Abstract][Full Text] [Related]
15. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375).
Nishimura G; Fukushima Y; Ohashi H; Ikegawa S
Am J Med Genet; 1995 Nov; 59(3):393-5. PubMed ID: 8599370
[No Abstract] [Full Text] [Related]
16. [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]
17. 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]
18. Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.
Prinster C; Del Maschio M; Beluffi G; Maghnie M; Weber G; Del Maschio A; Chiumello G
Pediatr Radiol; 2001 Mar; 31(3):203-8. PubMed ID: 11297088
[TBL] [Abstract][Full Text] [Related]
19. [Achondroplasia, hypochondroplasia].
Fujiwara F; Tonoki H
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):301-3. PubMed ID: 11057237
[No Abstract] [Full Text] [Related]
20. Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Sobetzko D; Braga S; Rüdeberg A; Superti-Furga A
J Med Genet; 2000 Dec; 37(12):958-9. PubMed ID: 11186940
[No Abstract] [Full Text] [Related]
[Next] [New Search]