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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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  • 4. 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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  • 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 Aug; 65(4):210-6. PubMed ID: 16582564
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  • 6. 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
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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 May; 68(5):218-24. PubMed ID: 17389811
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  • 8. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 14. 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
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  • 15. Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.
    Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC.
    Clin Endocrinol (Oxf); 2012 May; 76(5):706-12. PubMed ID: 22117696
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  • 16. Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
    Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K.
    J Clin Endocrinol Metab; 1997 Nov; 82(11):3705-9. PubMed ID: 9360529
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