BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

294 related articles for article (PubMed ID: 29249625)

  • 1. Genetic disorders of GH action pathway.
    Domené HM; Fierro-Carrión G
    Growth Horm IGF Res; 2018 Feb; 38():19-23. PubMed ID: 29249625
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic causes of growth hormone insensitivity beyond GHR.
    Hwa V; Fujimoto M; Zhu G; Gao W; Foley C; Kumbaji M; Rosenfeld RG
    Rev Endocr Metab Disord; 2021 Mar; 22(1):43-58. PubMed ID: 33029712
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
    Heath KE; Argente J; Barrios V; Pozo J; Díaz-González F; Martos-Moreno GA; Caimari M; Gracia R; Campos-Barros A
    J Clin Endocrinol Metab; 2008 May; 93(5):1616-24. PubMed ID: 18303074
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
    Wit JM; Oostdijk W; Losekoot M; van Duyvenvoorde HA; Ruivenkamp CA; Kant SG
    Eur J Endocrinol; 2016 Apr; 174(4):R145-73. PubMed ID: 26578640
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature.
    Domené HM; Scaglia PA; Jasper HG
    Pediatr Endocrinol Rev; 2010 Jun; 7(4):339-46. PubMed ID: 20679994
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Atypical defects resulting in growth hormone insensitivity.
    Wit JM; de Luca F
    Growth Horm IGF Res; 2016 Jun; 28():57-61. PubMed ID: 26670721
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Sex-based differences in growth-related IGF1 signaling in response to PAPP-A2 deficiency: comparative effects of rhGH, rhIGF1 and rhPAPP-A2 treatments.
    Fernández-Arjona MDM; Navarro JA; López-Gambero AJ; de Ceglia M; Rodríguez M; Rubio L; Rodríguez de Fonseca F; Barrios V; Chowen JA; Argente J; Rivera P; Suárez J
    Biol Sex Differ; 2024 Apr; 15(1):34. PubMed ID: 38589872
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of insulin-like growth factor deficiency.
    Wit JM; Oostdijk W; Losekoot M
    Endocr Dev; 2012; 23():30-41. PubMed ID: 23182818
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
    Savage MO; Hwa V; David A; Rosenfeld RG; Metherell LA
    Front Endocrinol (Lausanne); 2011; 2():95. PubMed ID: 22654835
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
    Ramírez L; Sanguineti N; Scaglia P; Keselman A; Ballerini MG; Karabatas L; Landi E; Castro J; Domené S; Pennisi P; Jasper H; Rey RA; Vázquez M; Domené H; Bergadá I; Gutiérrez M
    Growth Horm IGF Res; 2020 Feb; 50():61-70. PubMed ID: 31902742
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
    Storr HL; Dunkel L; Kowalczyk J; Savage MO; Metherell LA
    Eur J Endocrinol; 2015 Feb; 172(2):151-61. PubMed ID: 25411237
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic analysis of short children with apparent growth hormone insensitivity.
    Wit JM; van Duyvenvoorde HA; Scheltinga SA; de Bruin S; Hafkenscheid L; Kant SG; Ruivenkamp CA; Gijsbers AC; van Doorn J; Feigerlova E; Noordam C; Walenkamp MJ; Claahsen-van de Grinten H; Stouthart P; Bonapart IE; Pereira AM; Gosen J; Delemarre-van de Waal HA; Hwa V; Breuning MH; Domené HM; Oostdijk W; Losekoot M
    Horm Res Paediatr; 2012; 77(5):320-33. PubMed ID: 22678306
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnosis and management of disorders of IGF-I synthesis and action.
    Wit JM
    Pediatr Endocrinol Rev; 2011 Sep; 9 Suppl 1():538-40. PubMed ID: 22423513
    [TBL] [Abstract][Full Text] [Related]  

  • 14. IGF-I in human growth: lessons from defects in the GH-IGF-I axis.
    Hwa V; Fang P; Derr MA; Fiegerlova E; Rosenfeld RG
    Nestle Nutr Inst Workshop Ser; 2013; 71():43-55. PubMed ID: 23502138
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Short stature related to Growth Hormone Insensitivity (GHI) in childhood.
    Mastromauro C; Giannini C; Chiarelli F
    Front Endocrinol (Lausanne); 2023; 14():1141039. PubMed ID: 37008935
    [TBL] [Abstract][Full Text] [Related]  

  • 16. IGFs and IGFBPs in GH insensitivity.
    Savage MO; Blair JC; Jorge AJ; Street ME; Ranke MB; Camacho-Hübner C
    Endocr Dev; 2005; 9():100-106. PubMed ID: 15879692
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
    Domené HM; Scaglia PA; Lteif A; Mahmud FH; Kirmani S; Frystyk J; Bedecarrás P; Gutiérrez M; Jasper HG
    J Clin Endocrinol Metab; 2007 Nov; 92(11):4444-50. PubMed ID: 17726072
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Homozygous Mutation of the Acid-Labile Subunit
    Poyrazoğlu Ş; Hwa V; Baş F; Dauber A; Rosenfeld R; Darendeliler F
    J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):432-438. PubMed ID: 30717585
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Current issues on molecular diagnosis of GH signaling defects.
    Feigerlova E; Hwa V; Derr MA; Rosenfeld RG
    Endocr Dev; 2013; 24():118-27. PubMed ID: 23392100
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
    Shapiro L; Chatterjee S; Ramadan DG; Davies KM; Savage MO; Metherell LA; Storr HL
    Eur J Endocrinol; 2017 Dec; 177(6):485-501. PubMed ID: 28870985
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.