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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
PPAR gamma and human metabolic disease.
Semple RK, Chatterjee VK, O'Rahilly S. Semple RK, et al. J Clin Invest. 2006 Mar;116(3):581-9. doi: 10.1172/JCI28003. J Clin Invest. 2006. PMID: 16511590 Free PMC article. Review.
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
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB. Dash S, et al. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9350-5. doi: 10.1073/pnas.0900909106. Epub 2009 May 22. Proc Natl Acad Sci U S A. 2009. PMID: 19470471 Free PMC article.
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK. Guran T, et al. J Clin Endocrinol Metab. 2009 Oct;94(10):3633-3639. doi: 10.1210/jc.2009-0551. Epub 2009 Sep 15. J Clin Endocrinol Metab. 2009. PMID: 19755480 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.
553 results