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Page 1
Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.
Mul JD, Begg DP, Alsters SI, van Haaften G, Duran KJ, D'Alessio DA, le Roux CW, Woods SC, Sandoval DA, Blakemore AI, Cuppen E, van Haelst MM, Seeley RJ. Mul JD, et al. Among authors: cuppen e. Am J Physiol Endocrinol Metab. 2012 Jul 1;303(1):E103-10. doi: 10.1152/ajpendo.00159.2012. Epub 2012 Apr 24. Am J Physiol Endocrinol Metab. 2012. PMID: 22535749 Free PMC article.
Pmch expression during early development is critical for normal energy homeostasis.
Mul JD, Yi CX, van den Berg SA, Ruiter M, Toonen PW, van der Elst MC, Voshol PJ, Ellenbroek BA, Kalsbeek A, la Fleur SE, Cuppen E. Mul JD, et al. Among authors: cuppen e. Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E477-88. doi: 10.1152/ajpendo.00154.2009. Epub 2009 Nov 24. Am J Physiol Endocrinol Metab. 2010. PMID: 19934402 Free article.
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: cuppen e. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Among authors: cuppen e. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: cuppen e. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
311 results