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238 related items for PubMed ID: 12669268
1. Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J. Horm Metab Res; 2003 Jan; 35(1):29-35. PubMed ID: 12669268 [Abstract] [Full Text] [Related]
2. Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. Vaidya RA, Vaidya AD, Talwalkar SC, Mehtalia SD, Shringi MS, Pandey SN, Shah SJ, Godse C, Joshi JV, Sheth J, Kamdar VV. J Assoc Physicians India; 2002 Jun; 50():773-6. PubMed ID: 12240840 [Abstract] [Full Text] [Related]
3. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT. Clin Endocrinol (Oxf); 2008 Jul; 69(1):61-8. PubMed ID: 18031308 [Abstract] [Full Text] [Related]
12. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. Am J Hum Genet; 2000 Apr; 66(4):1192-8. PubMed ID: 10739751 [Abstract] [Full Text] [Related]
15. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. Hegele RA, Cao H, Anderson CM, Hramiak IM. J Clin Endocrinol Metab; 2000 Sep; 85(9):3431-5. PubMed ID: 10999845 [Abstract] [Full Text] [Related]
16. An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). Pandey SN, Pungavkar SA, Vaidya RA, Patkar D, Hegele RA, Sheth FJ, Sheth J, Shah SS, Vaidya AB. J Assoc Physicians India; 2005 Oct; 53():897-900. PubMed ID: 16459536 [Abstract] [Full Text] [Related]
17. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Spuler S, Kalbhenn T, Zabojszcza J, van Landeghem FK, Ludtke A, Wenzel K, Koehnlein M, Schuelke M, Lüdemann L, Schmidt HH. Neurology; 2007 Feb 27; 68(9):677-83. PubMed ID: 17325275 [Abstract] [Full Text] [Related]
18. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A. Nat Genet; 1998 Mar 27; 18(3):292-5. PubMed ID: 9500556 [Abstract] [Full Text] [Related]
19. Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Owen KR, Donohoe M, Ellard S, Clarke TJ, Nicholls AJ, Hattersley AT, Bingham C. Nephron Clin Pract; 2004 Mar 27; 96(2):c35-8. PubMed ID: 14988595 [Abstract] [Full Text] [Related]