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Journal Abstract Search

250 related items for PubMed ID: 9158142

  • 1. 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
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  • 2. 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
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  • 5. 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 15; 104(4):277-81. PubMed ID: 11754059
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  • 9. [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 Dec 15; 57(3):153. PubMed ID: 8949408
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  • 10. 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 15; 27(6):451-5. PubMed ID: 9869286
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  • 12. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
    Chen L, Li C, Qiao W, Xu X, Deng C.
    Hum Mol Genet; 2001 Mar 01; 10(5):457-65. PubMed ID: 11181569
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  • 14. 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 01; 45 Suppl():S171-4. PubMed ID: 9790257
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  • 18. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
    Ajmal M, Mir A, Shoaib M, Malik SA, Nasir M.
    Diagn Pathol; 2017 Jul 05; 12(1):47. PubMed ID: 28679403
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  • 20. PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation.
    Yamanaka Y, Tanaka H, Koike M, Nishimura R, Seino Y.
    J Bone Miner Res; 2003 Aug 05; 18(8):1395-403. PubMed ID: 12929929
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