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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P. Bonnefond A, et al. Among authors: goldstone ap. J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778136 Free PMC article.
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.
Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Miller J, et al. Among authors: goldstone ap. J Pediatr. 2006 Aug;149(2):192-8. doi: 10.1016/j.jpeds.2006.04.013. J Pediatr. 2006. PMID: 16887432
Recommendations for the diagnosis and management of Prader-Willi syndrome.
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Goldstone AP, et al. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi: 10.1210/jc.2008-0649. Epub 2008 Aug 12. J Clin Endocrinol Metab. 2008. PMID: 18697869
Nutritional phases in Prader-Willi syndrome.
Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Miller JL, et al. Among authors: goldstone ap. Am J Med Genet A. 2011 May;155A(5):1040-9. doi: 10.1002/ajmg.a.33951. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465655 Free PMC article.
Hypogonadism in Adult Males with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion.
Pellikaan K, Ben Brahim Y, Rosenberg AGW, Davidse K, Poitou C, Coupaye M, Goldstone AP, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Eldar-Geva T, Hirsch HJ, Gross-Tsur V, Butler MG, Miller JL, van den Berg SAA, van der Lely AJ, de Graaff LCG. Pellikaan K, et al. Among authors: goldstone ap. J Clin Med. 2021 Sep 24;10(19):4361. doi: 10.3390/jcm10194361. J Clin Med. 2021. PMID: 34640379 Free PMC article.
103 results