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Page 1
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A. Agarwal AK, et al. J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7. doi: 10.1210/jc.2003-030855. J Clin Endocrinol Metab. 2003. PMID: 14557463
Complement abnormalities in acquired lipodystrophy revisited.
Savage DB, Semple RK, Clatworthy MR, Lyons PA, Morgan BP, Cochran EK, Gorden P, Raymond-Barker P, Murgatroyd PR, Adams C, Scobie I, Mufti GJ, Alexander GJ, Thiru S, Murano I, Cinti S, Chaudhry AN, Smith KG, O'Rahilly S. Savage DB, et al. J Clin Endocrinol Metab. 2009 Jan;94(1):10-6. doi: 10.1210/jc.2008-1703. Epub 2008 Oct 14. J Clin Endocrinol Metab. 2009. PMID: 18854390
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB. Semple RK, et al. J Clin Invest. 2009 Feb;119(2):315-22. doi: 10.1172/JCI37432. Epub 2009 Jan 26. J Clin Invest. 2009. PMID: 19164855 Free PMC article.
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB; LD Screening Consortium. Rubio-Cabezas O, et al. EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037. EMBO Mol Med. 2009. PMID: 20049731 Free PMC article.
Lipodystrophy: metabolic insights from a rare disorder.
Huang-Doran I, Sleigh A, Rochford JJ, O'Rahilly S, Savage DB. Huang-Doran I, et al. J Endocrinol. 2010 Dec;207(3):245-55. doi: 10.1677/JOE-10-0272. Epub 2010 Sep 24. J Endocrinol. 2010. PMID: 20870709 Review.
Genetic syndromes of severe insulin resistance.
Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S. Semple RK, et al. Endocr Rev. 2011 Aug;32(4):498-514. doi: 10.1210/er.2010-0020. Epub 2011 May 2. Endocr Rev. 2011. PMID: 21536711 Review.
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Payne F, et al. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889630 Free PMC article.
557 results