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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

203 related items for PubMed ID: 8589686

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  • 2. 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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  • 8. 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
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  • 9. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
    Grigelioniene G, Eklöf O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenäs L.
    Hum Genet; 2000 Aug; 107(2):145-9. PubMed ID: 11030412
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  • 11. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
    Stoilov I, Kilpatrick MW, Tsipouras P.
    Am J Med Genet; 1995 Jan 02; 55(1):127-33. PubMed ID: 7702086
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  • 16. 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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  • 18. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
    Ross JL, Bellus G, Scott CI, Abboudi J, Grigelioniene G, Zinn AR.
    Am J Med Genet A; 2003 Jan 01; 116A(1):61-5. PubMed ID: 12476453
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  • 19. Clinical and genetic heterogeneity of hypochondroplasia.
    Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M.
    J Med Genet; 1996 Sep 01; 33(9):749-52. PubMed ID: 8880574
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