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498 results

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: wit jm. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631
Genetic analysis of tall stature.
Kant SG, Wit JM, Breuning MH. Kant SG, et al. Among authors: wit jm. Horm Res. 2005;64(3):149-56. doi: 10.1159/000088589. Epub 2005 Sep 27. Horm Res. 2005. PMID: 16192740
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
Overgrowth syndromes:from classical to new.
Visser R, Kant SG, Wit JM, Breuning MH. Visser R, et al. Among authors: wit jm. Pediatr Endocrinol Rev. 2009 Mar;6(3):375-94. Pediatr Endocrinol Rev. 2009. PMID: 19396024 Review.
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.
Genetic analysis of short stature.
Kant SG, Wit JM, Breuning MH. Kant SG, et al. Among authors: wit jm. Horm Res. 2003;60(4):157-65. doi: 10.1159/000073226. Horm Res. 2003. PMID: 14530602 Review.
498 results