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Journal Abstract Search

210 related items for PubMed ID: 9672519

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  • 2. [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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  • 5. 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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  • 7. 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 Sep; 49 Suppl 1():57. PubMed ID: 9554479
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  • 8. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
    Ezquieta Zubicaray B, Iguacel AO, Varela Junquera JM, Jariego Fente CM, González Gancedo P, Gracia Bouthelier R.
    Med Clin (Barc); 1999 Mar 06; 112(8):290-3. PubMed ID: 10207844
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  • 10. Achondroplasia-hypochondroplasia complex in a newborn infant.
    Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.
    Am J Med Genet; 1999 Jun 11; 84(5):396-400. PubMed ID: 10360392
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  • 14. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
    Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
    Eur J Hum Genet; 2006 Dec 11; 14(12):1240-7. PubMed ID: 16912704
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  • 15. [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 11; 57(3):153. PubMed ID: 8949408
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  • 16. 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 11; 47 Suppl():S121-4. PubMed ID: 10890199
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