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Journal Abstract Search

185 related items for PubMed ID: 8488849

  • 21. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.
    Quinteiro C, Castro-Feijoo L, Loidi L, Barreiro J, de la Fuente M, Dominguez F, Pombo M.
    J Pediatr Endocrinol Metab; 2002; 15(7):1041-5. PubMed ID: 12199334
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
    Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V.
    Horm Res Paediatr; 2013 May; 80(6):397-405. PubMed ID: 24296660
    [Abstract] [Full Text] [Related]

  • 25. The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
    Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TS, Damiani D, Arnhold IJ, Laron Z, Jorge AA.
    Am J Med Genet A; 2014 May; 164A(5):1204-8. PubMed ID: 24664892
    [Abstract] [Full Text] [Related]

  • 26. 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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  • 28. 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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  • 30. [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
    [Abstract] [Full Text] [Related]

  • 31. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.
    Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI.
    Proc Natl Acad Sci U S A; 1989 Oct; 86(20):8083-7. PubMed ID: 2813379
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. [GH receptor gene mutations and growth failure].
    Kaji H.
    Nihon Rinsho; 1998 Jul; 56(7):1830-5. PubMed ID: 9702061
    [Abstract] [Full Text] [Related]

  • 34. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.
    Berg MA, Peoples R, Pérez-Jurado L, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RD, Francke U.
    Acta Paediatr Suppl; 1994 Apr; 399():112-4. PubMed ID: 7949594
    [Abstract] [Full Text] [Related]

  • 35. Laron dwarfism and mutations of the growth hormone-receptor gene.
    Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M.
    N Engl J Med; 1989 Oct 12; 321(15):989-95. PubMed ID: 2779634
    [Abstract] [Full Text] [Related]

  • 36. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
    Moia S, Tessaris D, Einaudi S, de Sanctis L, Bona G, Bellone S, Prodam F.
    Ital J Pediatr; 2017 Oct 12; 43(1):94. PubMed ID: 29025428
    [Abstract] [Full Text] [Related]

  • 37. Growth hormone receptor mutations in children with idiopathic short stature.
    Sanchez JE, Perera E, Baumbach L, Cleveland WW.
    J Clin Endocrinol Metab; 1998 Nov 12; 83(11):4079-83. PubMed ID: 9814495
    [Abstract] [Full Text] [Related]

  • 38. 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 12; 9(4):335-8. PubMed ID: 17706034
    [Abstract] [Full Text] [Related]

  • 39. Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.
    Al-Ashwal AA, Al-Sagheir A, Ramzan K, Al-Owain M, Allam R, Qari A, Al-Numair NS, Imtiaz F.
    Horm Res Paediatr; 2017 Aug 12; 88(2):119-126. PubMed ID: 28743110
    [Abstract] [Full Text] [Related]

  • 40. 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 12; 65(4):210-6. PubMed ID: 16582564
    [Abstract] [Full Text] [Related]

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