BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 17849745)

  • 21. 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; 1(1):24-32. PubMed ID: 1284474
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of two novel mutations in the human growth hormone receptor gene.
    Shevah O; Borrelli P; Rubinstein M; Laron Z
    J Endocrinol Invest; 2003 Jul; 26(7):604-8. PubMed ID: 14594108
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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; 8(3):159-65. PubMed ID: 8521189
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 9(4):335-8. PubMed ID: 17706034
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
    Aisenberg J; Auyeung V; Pedro HF; Sugalski R; Chartoff A; Rothenberg R; Derr MA; Hwa V; Rosenfeld RG
    Horm Res Paediatr; 2010; 74(6):406-11. PubMed ID: 20606392
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 16(8):1183-9. PubMed ID: 14594180
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; ;
    Growth Horm IGF Res; 2007 Aug; 17(4):307-14. PubMed ID: 17462934
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.
    Bitarafan F; Khodaeian M; Garrousi F; Khalesi R; Ghazi Nader D; Karimi B; Alibakhshi R; Garshasbi M
    BMC Endocr Disord; 2023 Jul; 23(1):155. PubMed ID: 37474955
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
    Fang P; Riedl S; Amselem S; Pratt KL; Little BM; Haeusler G; Hwa V; Frisch H; Rosenfeld RG
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2223-31. PubMed ID: 17405847
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 43(1):94. PubMed ID: 29025428
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 65(4):210-6. PubMed ID: 16582564
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.
    Jorge AA; Souza SC; Arnhold IJ; Mendonca BB
    Clin Endocrinol (Oxf); 2004 Jan; 60(1):36-40. PubMed ID: 14678285
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 35. A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.
    Tiulpakov A; Rubtsov P; Dedov I; Peterkova V; Bezlepkina O; Chrousos GP; Hochberg Z
    J Clin Endocrinol Metab; 2005 Jan; 90(1):542-7. PubMed ID: 15536163
    [TBL] [Abstract][Full Text] [Related]  

  • 36. IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.
    Laron Z; Kauli R; Lapkina L; Werner H
    Mutat Res Rev Mutat Res; 2017; 772():123-133. PubMed ID: 28528685
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.
    Guevara-Aguirre J; Rosenbloom AL; Guevara-Aguirre M; Yariz K; Saavedra J; Baumbach L; Shuster J
    Growth Horm IGF Res; 2007 Jun; 17(3):261-4. PubMed ID: 17350302
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Laron syndrome - A historical perspective.
    Laron Z; Werner H
    Rev Endocr Metab Disord; 2021 Mar; 22(1):31-41. PubMed ID: 32964395
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.