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Page 1
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group. Domené HM, et al. Among authors: van duyvenvoorde ha. Horm Res. 2009;72(3):129-41. doi: 10.1159/000232486. Epub 2009 Sep 1. Horm Res. 2009. PMID: 19729943 Review.
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM. Walenkamp MJ, et al. Among authors: van thiel sw, van duyvenvoorde ha, van doorn j. J Clin Endocrinol Metab. 2005 May;90(5):2855-64. doi: 10.1210/jc.2004-1254. Epub 2005 Mar 15. J Clin Endocrinol Metab. 2005. PMID: 15769976
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: van duyvenvoorde ha, van der kamp hj. J Clin Endocrinol Metab. 2006 Aug;91(8):3062-70. doi: 10.1210/jc.2005-1597. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757531
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA. Vidarsdottir S, et al. Among authors: van duyvenvoorde ha, van dissel j, van doorn j. J Clin Endocrinol Metab. 2006 Sep;91(9):3482-5. doi: 10.1210/jc.2006-0368. Epub 2006 Jun 20. J Clin Endocrinol Metab. 2006. PMID: 16787985
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA. Walenkamp MJ, et al. Among authors: van duyvenvoorde ha, van dissel j, van doorn j. Eur J Endocrinol. 2007 Feb;156(2):155-65. doi: 10.1530/eje.1.02327. Eur J Endocrinol. 2007. PMID: 17287404
Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M. Ester WA, et al. Among authors: van duyvenvoorde ha. J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 19864454
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, Bang P, Högler W, Kirsch S, Pihoker C, Chiu HK, Cohen L, Jacobsen C, Jasper HG, Haeusler G, Campos-Barros A, Gallego-Gómez E, Gracia-Bouthelier R, van Duyvenvoorde HA, Pozo J, Rosenfeld RG. Fofanova-Gambetti OV, et al. Among authors: van duyvenvoorde ha. J Clin Endocrinol Metab. 2010 Sep;95(9):4184-91. doi: 10.1210/jc.2010-0489. Epub 2010 Jun 30. J Clin Endocrinol Metab. 2010. PMID: 20591980
49 results