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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: driscoll dj. 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: driscoll dj. 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
385 results