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Results: 1 to 20 of 112

Similar articles for PubMed (Select 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. No abstract available.

2.

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.

PMID:
10215410
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 3;63(1):148-54.

PMID:
8723101
4.

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.

PMID:
7670477
5.

[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. Spanish.

PMID:
15022403
6.

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.

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 15;119A(1):81-4. No abstract available.

PMID:
12707965
8.

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. No abstract available.

PMID:
9554479
9.

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.

PMID:
11071087
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.

PMID:
9055906
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. French. No abstract available.

PMID:
8949408
12.

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 17;86(3):300-1. No abstract available.

PMID:
10482885
13.

Atypical achondroplasia.

Gorlin RJ.

Am J Med Genet. 1997 May 16;70(2):202; author reply 203-5. No abstract available.

PMID:
9128943
14.

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Horton WA.

Curr Opin Pediatr. 1997 Aug;9(4):437-42. Review.

PMID:
9300204
15.
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 2;145(22):1056-9. Review. Dutch.

PMID:
11414167
17.

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. No abstract available.

18.

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].

Zhu B, Dong QM, Huang XH, Ji GQ, Chen Y, Wang WX, Jiang HY, Gao JS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):373-5. Chinese.

PMID:
14556186
19.

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.

Yang SW, Kitoh H, Yamada Y, Goto H, Ogasawara N.

Acta Paediatr Jpn. 1998 Aug;40(4):324-7.

PMID:
9745773
20.

Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.

Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T.

Endocr J. 2000 Mar;47 Suppl:S121-4.

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