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Page 1
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.
Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Schroor EJ, Van Alfen AA, Van Leeuwen M, Van Pinxteren-Nagler E, Van Wieringen H, Vreuls RC, Zwaveling-Soonawala N, de Ridder MA, Hokken-Koelega AC. Bakker NE, et al. Among authors: van pinxteren nagler e. J Clin Endocrinol Metab. 2013 Oct;98(10):4013-22. doi: 10.1210/jc.2013-2012. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001750
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.
Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Troeman ZC, van Alfen-van der Velden AA, Otten BJ, Rotteveel J, Odink RJ, Bindels-de Heus GC, van Leeuwen M, Haring DA, Oostdijk W, Bocca G, Mieke Houdijk EC, van Trotsenburg AS, Hoorweg-Nijman JJ, van Wieringen H, Vreuls RC, Jira PE, Schroor EJ, van Pinxteren-Nagler E, Willem Pilon J, Lunshof LB, Hokken-Koelega AC. Siemensma EP, et al. Among authors: van pinxteren nagler e. J Clin Endocrinol Metab. 2012 Jul;97(7):2307-14. doi: 10.1210/jc.2012-1182. Epub 2012 Apr 16. J Clin Endocrinol Metab. 2012. PMID: 22508707 Free article. Clinical Trial.
Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.
Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A, Thiagalingam A, Denèfle P; EPIGROW Study Group. Clayton P, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1122-30. doi: 10.1210/jc.2012-4283. Epub 2013 Apr 17. J Clin Endocrinol Metab. 2013. PMID: 23596138