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Journal Abstract Search

324 related items for PubMed ID: 11013443

  • 1. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
    Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U.
    Hum Mutat; 2000 Oct; 16(4):323-33. PubMed ID: 11013443
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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 Oct; 1(1):24-32. PubMed ID: 1284474
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  • 3. 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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  • 5. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.
    Hujeirat Y, Hess O, Shalev S, Tenenbaum-Rakover Y.
    Horm Res; 2006 Sep; 65(4):210-6. PubMed ID: 16582564
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  • 7. Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
    Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG.
    Horm Res; 2007 Sep; 68(5):218-24. PubMed ID: 17389811
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  • 9. A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
    Rivolta CM, Mallea Gil MS, Ballarino C, Ridruejo MC, Miguel CM, Gimenez SB, Bernacchi SS, Targovnik HM.
    Mol Diagn; 2004 Sep; 8(3):163-9. PubMed ID: 15771554
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  • 10. A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome).
    Yamamoto H, Kouhara H, Iida K, Chihara K, Kasayama S.
    Growth Horm IGF Res; 2008 Apr; 18(2):136-42. PubMed ID: 17728167
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  • 11. Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.
    Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson LM.
    N Engl J Med; 1995 Oct 26; 333(17):1093-8. PubMed ID: 7565946
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  • 12. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
    Lin Z, deMello DE, Wallot M, Floros J.
    Mol Genet Metab; 1998 May 26; 64(1):25-35. PubMed ID: 9682215
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  • 17. Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
    Pantel J, Grulich-Henn J, Bettendorf M, Strasburger CJ, Heinrich U, Amselem S.
    J Clin Endocrinol Metab; 2003 Apr 26; 88(4):1705-10. PubMed ID: 12679461
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  • 18. Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.
    Millar DS, Lewis MD, Horan M, Newsway V, Rees DA, Easter TE, Pepe G, Rickards O, Norin M, Scanlon MF, Krawczak M, Cooper DN.
    Mol Cell Endocrinol; 2008 Dec 16; 296(1-2):18-25. PubMed ID: 18950677
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  • 19. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.
    Ying YQ, Wei H, Cao LZ, Lu JJ, Luo XP.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Aug 16; 9(4):335-8. PubMed ID: 17706034
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