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Journal Abstract Search

107 related items for PubMed ID: 9290257

  • 21. Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.
    Bonioli E, Tarò M, Rosa CL, Citana A, Bertorelli R, Morcaldi G, Gastaldi R, Coviello DA.
    Growth Horm IGF Res; 2005 Dec; 15(6):405-10. PubMed ID: 16213173
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  • 22. Diverse growth hormone receptor gene mutations in Laron syndrome.
    Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U.
    Am J Hum Genet; 1993 May; 52(5):998-1005. PubMed ID: 8488849
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  • 24. Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice-donor sites in the androgen receptor gene.
    Trifiro MA, Lumbroso R, Beitel LK, Vasiliou DM, Bouchard J, Deal C, Van Vliet G, Pinsky L.
    Eur J Hum Genet; 1997 May; 5(1):50-8. PubMed ID: 9156321
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  • 25. Localization and regulation of the growth hormone receptor and growth hormone-binding protein in the rat growth plate.
    Gevers EF, van der Eerden BC, Karperien M, Raap AK, Robinson IC, Wit JM.
    J Bone Miner Res; 2002 Aug; 17(8):1408-19. PubMed ID: 12162495
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  • 28. A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
    Katsumata N, Matsuo S, Sato N, Tanaka T.
    Growth Horm IGF Res; 2001 Dec; 11(6):378-83. PubMed ID: 11914025
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  • 29. [Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].
    Chang GY, Chen SK, Gu XF, Gong ZW, Zhang QG.
    Zhonghua Er Ke Za Zhi; 2013 Dec; 51(12):930-3. PubMed ID: 24495765
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  • 30. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Dec; 43(2):91-100. PubMed ID: 9621512
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  • 31. A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.
    Putzolu M, Meloni A, Loche S, Pischedda C, Cao A, Moi P.
    J Endocrinol Invest; 1997 May; 20(5):286-8. PubMed ID: 9258809
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  • 33. Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.
    Hui HN, Metherell LA, Ng KL, Savage MO, Camacho-Hübner C, Clark AJ.
    J Pediatr Endocrinol Metab; 2005 Feb; 18(2):209-13. PubMed ID: 15751611
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  • 34. A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.
    Akıncı A, Rosenfeld RG, Hwa V.
    Horm Res Paediatr; 2013 Feb; 79(1):32-8. PubMed ID: 23006617
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  • 36. Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.
    Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S.
    J Clin Endocrinol Metab; 1997 Feb; 82(2):435-7. PubMed ID: 9024232
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  • 37. Growth hormone insensitivity syndrome due to point deletion and frame shift in the growth hormone receptor.
    Counts DR, Cutler GB.
    J Clin Endocrinol Metab; 1995 Jun; 80(6):1978-81. PubMed ID: 7775649
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  • 39. [Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].
    Jorge AA, Menezes Filho HC, Lins TS, Guedes DR, Damiani D, Setian N, Arnhold IJ, Mendonça BB.
    Arq Bras Endocrinol Metabol; 2005 Jun; 49(3):384-9. PubMed ID: 16543992
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  • 40. The spectrum of growth-hormone insensitivity.
    Parks JS, Brown MR, Faase ME.
    J Pediatr; 1997 Jul; 131(1 Pt 2):S45-50. PubMed ID: 9255228
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