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Journal Abstract Search

272 related items for PubMed ID: 8949408

  • 1. [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]

  • 2. 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. PubMed ID: 10482885
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  • 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 03; 63(1):148-54. PubMed ID: 8723101
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  • 4. [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 02; 145(22):1056-9. PubMed ID: 11414167
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  • 5. 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 02; 417():33-8. PubMed ID: 9055906
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  • 6. 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 02; 27(6):451-5. PubMed ID: 9869286
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  • 11. 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 Dec 02; 49 Suppl 1():57. PubMed ID: 9554479
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  • 15. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
    Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.
    Clin Genet; 2009 Feb 02; 75(2):150-6. PubMed ID: 19215249
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  • 17. 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 02; 80(6):1052-6. PubMed ID: 9853502
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  • 20. [Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia].
    Moskalewski S, Hyc A, Osiecka-Iwan A, Strzelczyk P.
    Chir Narzadow Ruchu Ortop Pol; 2000 Nov 02; 65(3):327-33. PubMed ID: 11057021
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