BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 37474955)

  • 1. 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]  

  • 2. 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]  

  • 3. Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver.
    Hinrichs A; Kessler B; Kurome M; Blutke A; Kemter E; Bernau M; Scholz AM; Rathkolb B; Renner S; Bultmann S; Leonhardt H; de Angelis MH; Nagashima H; Hoeflich A; Blum WF; Bidlingmaier M; Wanke R; Dahlhoff M; Wolf E
    Mol Metab; 2018 May; 11():113-128. PubMed ID: 29678421
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

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

  • 7. 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; 88(2):119-126. PubMed ID: 28743110
    [TBL] [Abstract][Full Text] [Related]  

  • 8. First use of gene therapy to treat growth hormone resistant dwarfism in a mouse model.
    Sia KC; Gan SU; Mohd Rodhi SH; Fu ZY; Kopchick JJ; Waters MJ; Lee KO
    Gene Ther; 2022 Jun; 29(6):346-356. PubMed ID: 35105948
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Mouse models of growth hormone insensitivity.
    Young J; Bell S; Qian Y; Hyman C; Berryman DE
    Rev Endocr Metab Disord; 2021 Mar; 22(1):17-29. PubMed ID: 33037595
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
    Derr MA; Aisenberg J; Fang P; Tenenbaum-Rakover Y; Rosenfeld RG; Hwa V
    J Clin Endocrinol Metab; 2011 Nov; 96(11):E1896-904. PubMed ID: 21900382
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

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

  • 18. 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]  

  • 19. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
    Rughani A; Zhang D; Vairamani K; Dauber A; Hwa V; Krishnan S
    Clin Endocrinol (Oxf); 2020 Apr; 92(4):331-337. PubMed ID: 31883394
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.