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185 related items for PubMed ID: 8488849

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.
    Rosenbloom AL, Berg MA, Kasatkina EP, Volkova TN, Skorobogatova VF, Sokolovskaya VN, Francke U.
    J Pediatr Endocrinol Metab; 1995 May; 8(3):159-65. PubMed ID: 8521189
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.
    Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M.
    Hum Mol Genet; 1993 Apr; 2(4):355-9. PubMed ID: 8504296
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
    Gennero I, Edouard T, Rashad M, Bieth E, Conte-Aurio F, Marin F, Tauber M, Salles JP, El Kholy M.
    J Pediatr Endocrinol Metab; 2007 Jul; 20(7):825-31. PubMed ID: 17849745
    [Abstract] [Full Text] [Related]

  • 7. 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 Jul; 1(1):24-32. PubMed ID: 1284474
    [Abstract] [Full Text] [Related]

  • 8. The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome.
    Otsuka T, Iwatani N, Kodama M, Sakakida M, Shichiri M, Jinno Y, Niikawa N, Miike T.
    Jpn J Hum Genet; 1997 Jun; 42(2):323-9. PubMed ID: 9290257
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.
    Chen X, Song F, Dai Y, Bao X, Jin Y.
    J Pediatr Endocrinol Metab; 2003 Feb; 16(8):1183-9. PubMed ID: 14594180
    [Abstract] [Full Text] [Related]

  • 11. Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.
    Shevah O, Rubinstein M, Laron Z.
    Isr Med Assoc J; 2004 Oct; 6(10):630-3. PubMed ID: 15473594
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
    Arman A, Yüksel B, Coker A, Sarioz O, Temiz F, Topaloglu AK.
    J Pediatr Endocrinol Metab; 2010 Apr; 23(4):407-14. PubMed ID: 20583548
    [Abstract] [Full Text] [Related]

  • 14. [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
    [Abstract] [Full Text] [Related]

  • 15. [Mutation of growth hormone receptor gene in patients with short stature].
    Song F, Dai YH, Bao XL, Chen XL, Jin YW.
    Zhonghua Er Ke Za Zhi; 2006 Nov; 44(11):859-64. PubMed ID: 17274879
    [Abstract] [Full Text] [Related]

  • 16. Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.
    Besson A, Salemi S, Eblé A, Joncourt F, Gallati S, Jorge AA, Mullis PE.
    Eur J Endocrinol; 2004 May; 150(5):635-42. PubMed ID: 15132718
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis of inherited growth hormone resistance in childhood.
    Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M.
    Baillieres Clin Endocrinol Metab; 1996 Jul; 10(3):353-69. PubMed ID: 8853444
    [Abstract] [Full Text] [Related]

  • 19. 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; 88(4):1705-10. PubMed ID: 12679461
    [Abstract] [Full Text] [Related]

  • 20. Growth Hormone Receptor Mutations Related to Individual Dwarfism.
    Lin S, Li C, Li C, Zhang X.
    Int J Mol Sci; 2018 May 10; 19(5):. PubMed ID: 29748515
    [Abstract] [Full Text] [Related]

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