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Journal Abstract Search

107 related items for PubMed ID: 9290257

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  • 2. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
    Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U.
    Hum Mutat; 1992; 1(1):24-32. PubMed ID: 1284474
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  • 3. Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.
    Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH, German KIMS Board, German KIMS Pharmacogenetics Study Group.
    Growth Horm IGF Res; 2007 Aug; 17(4):307-14. PubMed ID: 17462934
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  • 6. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.
    Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ.
    J Clin Endocrinol Metab; 1996 May; 81(5):1686-90. PubMed ID: 8626815
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  • 8. A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.
    Kang JH, Kim OS, Kim JH, Lee SK, Park YJ, Baik HW.
    Int J Mol Med; 2012 Sep; 30(3):713-7. PubMed ID: 22751808
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  • 13. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain.
    Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, Chihara K.
    J Clin Endocrinol Metab; 1998 Feb; 83(2):531-7. PubMed ID: 9467570
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  • 15. Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.
    Arman A, Ozon A, Isguven PS, Coker A, Peker I, Yordam N.
    J Pediatr Endocrinol Metab; 2008 Jan; 21(1):47-58. PubMed ID: 18404972
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  • 18. The intellectual capacity of patients with Laron syndrome (LS) differs with various molecular defects of the growth hormone receptor gene. Correlation with CNS abnormalities.
    Shevah O, Kornreich L, Galatzer A, Laron Z.
    Horm Metab Res; 2005 Dec; 37(12):757-60. PubMed ID: 16372230
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  • 20. Biologically inactive growth hormone caused by an amino acid substitution.
    Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K.
    J Clin Invest; 1997 Sep 01; 100(5):1159-65. PubMed ID: 9276733
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