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5. Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. Monajemi H; Zhang L; Li G; Jeninga EH; Cao H; Maas M; Brouwer CB; Kalkhoven E; Stroes E; Hegele RA; Leff T J Clin Endocrinol Metab; 2007 May; 92(5):1606-12. PubMed ID: 17299075 [TBL] [Abstract][Full Text] [Related]
6. The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy. Padova G; Prudente S; Vinciguerra F; Sudano D; Baratta R; Bellacchio E; Trischitta V; Vallone A; Sciacca L; Frittitta L Acta Diabetol; 2020 May; 57(5):589-596. PubMed ID: 31863320 [TBL] [Abstract][Full Text] [Related]
7. Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. Demir T; Onay H; Savage DB; Temeloglu E; Uzum AK; Kadioglu P; Altay C; Ozen S; Demir L; Cavdar U; Akinci B Diabet Med; 2016 Oct; 33(10):1445-50. PubMed ID: 26756202 [TBL] [Abstract][Full Text] [Related]
8. Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic. Iwanishi M; Ito-Kobayashi J; Washiyama M; Kusakabe T; Ebihara K Intern Med; 2018 Aug; 57(16):2301-2313. PubMed ID: 29607946 [TBL] [Abstract][Full Text] [Related]
9. Lessons from human mutations in PPARgamma. Hegele RA Int J Obes (Lond); 2005 Mar; 29 Suppl 1():S31-5. PubMed ID: 15711581 [TBL] [Abstract][Full Text] [Related]
11. New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand. Lüdtke A; Buettner J; Schmidt HH; Worman HJ J Med Genet; 2007 Sep; 44(9):e88. PubMed ID: 17766367 [TBL] [Abstract][Full Text] [Related]
12. Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. Miehle K; Porrmann J; Mitter D; Stumvoll M; Glaser C; Fasshauer M; Hoffmann K Clin Endocrinol (Oxf); 2016 Jan; 84(1):141-8. PubMed ID: 26119484 [TBL] [Abstract][Full Text] [Related]
13. Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants. Sekizkardes H; Cochran E; Malandrino N; Garg A; Brown RJ J Clin Endocrinol Metab; 2019 Aug; 104(8):3068-3076. PubMed ID: 31194872 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. [Primary lipodystrophies]. Capeau J; Magré J; Lascols O; Caron M; Béréziat V; Vigouroux C Ann Endocrinol (Paris); 2007 Feb; 68(1):10-20. PubMed ID: 17320032 [TBL] [Abstract][Full Text] [Related]
16. Fatty acid metabolism in patients with PPARgamma mutations. Tan GD; Savage DB; Fielding BA; Collins J; Hodson L; Humphreys SM; O'Rahilly S; Chatterjee K; Frayn KN; Karpe F J Clin Endocrinol Metab; 2008 Nov; 93(11):4462-70. PubMed ID: 18713822 [TBL] [Abstract][Full Text] [Related]
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19. LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype. Klupa T; Szopa M; Skupien J; Wojtyczek K; Cyganek K; Kowalska I; Malecki MT Endocrine; 2009 Dec; 36(3):518-23. PubMed ID: 19859838 [TBL] [Abstract][Full Text] [Related]
20. A pathogenic mechanism leading to partial lipodistrophy and prospects for pharmacological treatment of insulin resistance syndrome. Maraldi NM; Capanni C; Mattioli E; Columbaro M; Squarzoni S; Parnaik WK; Wehnert M; Lattanzi G Acta Biomed; 2007; 78 Suppl 1():207-15. PubMed ID: 17465333 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]