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Journal Abstract Search

551 related items for PubMed ID: 8078586

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  • 5. 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
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  • 6. Clinical and molecular characteristics of Thai patients with achondroplasia.
    Shotelersuk V, Ittiwut C, Srivuthana S, Wacharasindhu S, Aroonparkmongkol S, Mutirangura A, Poovorawan Y.
    Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):429-33. PubMed ID: 11556601
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  • 8. 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 Jun; 11(4):333. PubMed ID: 10215410
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  • 10. [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
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  • 11. [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. PubMed ID: 14556186
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  • 12. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.
    Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y.
    Hum Genet; 1995 Sep; 96(3):309-11. PubMed ID: 7649548
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  • 18. 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
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  • 19. Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.
    Falik-Zaccai TC, Shachak E, Abeliovitch D, Lerer I, Shefer R, Carmi R, Ries L, Friedman M, Shohat M, Borochowitz Z.
    Isr Med Assoc J; 2000 Aug; 2(8):601-4. PubMed ID: 10979354
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  • 20. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
    Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ.
    Cell; 1994 Jul 29; 78(2):335-42. PubMed ID: 7913883
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