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498 results

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Page 1
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
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: wit jm. 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
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: wit jm. J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18. J Clin Endocrinol Metab. 2008. PMID: 18349070
Copy number variants in patients with short stature.
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: wit jm. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.
Copy number variants in short children born small for gestational age.
Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Losekoot M, Baron J, Binder G, Ranke MB, Ruivenkamp CA. Wit JM, et al. Horm Res Paediatr. 2014;82(5):310-8. doi: 10.1159/000367712. Epub 2014 Oct 8. Horm Res Paediatr. 2014. PMID: 25300501 Free PMC article. Clinical Trial.
A novel variant of FGFR3 causes proportionate short stature.
Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M. Kant SG, et al. Among authors: wit jm. Eur J Endocrinol. 2015 Jun;172(6):763-70. doi: 10.1530/EJE-14-0945. Epub 2015 Mar 16. Eur J Endocrinol. 2015. PMID: 25777271
A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production.
Marzec M, Hawkes CP, Eletto D, Boyle S, Rosenfeld R, Hwa V, Wit JM, van Duyvenvoorde HA, Oostdijk W, Losekoot M, Pedersen O, Yeap BB, Flicker L, Barzilai N, Atzmon G, Grimberg A, Argon Y. Marzec M, et al. Among authors: wit jm. Endocrinology. 2016 May;157(5):1914-28. doi: 10.1210/en.2015-2058. Epub 2016 Mar 16. Endocrinology. 2016. PMID: 26982636 Free PMC article.
498 results