BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 15751611)

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

  • 2. 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]  

  • 3. Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree.
    Silbergeld A; Dastot F; Klinger B; Kanety H; Eshet R; Amselem S; Laron Z
    J Pediatr Endocrinol Metab; 1997; 10(3):265-74. PubMed ID: 9388817
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

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

  • 6. 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]  

  • 7. 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]  

  • 8. 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; 79(1):32-8. PubMed ID: 23006617
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 80(6):397-405. PubMed ID: 24296660
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. National Cooperative Growth Study substudy VI: the clinical utility of growth-hormone-binding protein, insulin-like growth factor I, and insulin-like growth factor-binding protein 3 measurements.
    Attie KM; Julius JR; Stoppani C; Rundle AC
    J Pediatr; 1997 Jul; 131(1 Pt 2):S56-60. PubMed ID: 9255230
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
    Diniz ET; Jorge AA; Arnhold IJ; Rosenbloom AL; Bandeira F
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1264-71. PubMed ID: 19169479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.
    Fang P; Girgis R; Little BM; Pratt KL; Guevara-Aguirre J; Hwa V; Rosenfeld RG
    J Clin Endocrinol Metab; 2008 Mar; 93(3):1030-7. PubMed ID: 18073295
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Insulin-like growth factor binding protein-3 generation: an index of growth hormone insensitivity.
    Thalange NK; Price DA; Gill MS; Whatmore AJ; Addison GM; Clayton PE
    Pediatr Res; 1996 May; 39(5):849-55. PubMed ID: 8726240
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.