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429 results

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Page 1
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B. Tornovsky S, et al. Among authors: argente j. J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. doi: 10.1210/jc.2004-1233. J Clin Endocrinol Metab. 2004. PMID: 15579781
Improvement in growth after two years of growth hormone therapy in very young children born small for gestational age and without spontaneous catch-up growth: results of a multicenter, controlled, randomized, open clinical trial.
Argente J, Gracia R, Ibáñez L, Oliver A, Borrajo E, Vela A, López-Siguero JP, Moreno ML, Rodríguez-Hierro F; Spanish SGA Working Group. Argente J, et al. J Clin Endocrinol Metab. 2007 Aug;92(8):3095-101. doi: 10.1210/jc.2007-0078. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17536000 Free article. Clinical Trial.
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. Heath KE, et al. Among authors: argente j. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. J Clin Endocrinol Metab. 2008. PMID: 18303074
Diverse growth hormone receptor gene mutations in Laron syndrome.
Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U. Berg MA, et al. Among authors: argente j. Am J Hum Genet. 1993 May;52(5):998-1005. Am J Hum Genet. 1993. PMID: 8488849 Free PMC article.
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC, Argente J, Veenma DC, Herrebout MA, Friesema EC, Uitterlinden AG, Drent ML, Campos-Barros A, Hokken-Koelega AC. de Graaff LC, et al. Among authors: argente j. Clin Endocrinol (Oxf). 2009 May;70(5):742-50. doi: 10.1111/j.1365-2265.2008.03414.x. Epub 2008 Sep 10. Clin Endocrinol (Oxf). 2009. PMID: 18785993
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: argente j. J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147883
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.
Muñoz-Calvo MT, Barrios V, Pozo J, Chowen JA, Martos-Moreno GÁ, Hawkins F, Dauber A, Domené HM, Yakar S, Rosenfeld RG, Pérez-Jurado LA, Oxvig C, Frystyk J, Argente J. Muñoz-Calvo MT, et al. Among authors: argente j. J Clin Endocrinol Metab. 2016 Nov;101(11):3879-3883. doi: 10.1210/jc.2016-2751. Epub 2016 Sep 20. J Clin Endocrinol Metab. 2016. PMID: 27648969 Free PMC article.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Cabezas OR, et al. Among authors: argente j. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3. J Am Soc Nephrol. 2017. PMID: 28373276 Free PMC article.
429 results