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| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene - Rabacchi_2016_J.Clin.Lipidol_10_915 |
| Author(s) : Rabacchi C , D'Addato S , Palmisano S , Lucchi T , Bertolini S , Calandra S , Tarugi P |
| Ref : J Clin Lipidol , 10 :915 , 2016 |
| Abstract : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| ESTHER : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedSearch : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedID: 27578123 |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia - Conca_2012_J.Clin.Lipidol_6_244 |
| Author(s) : Conca P , Pileggi S , Simonelli S , Boer E , Boscutti G , Magnolo L , Tarugi P , Penco S , Franceschini G , Calabresi L , Gomaraschi M |
| Ref : J Clin Lipidol , 6 :244 , 2012 |
| Abstract : Conca_2012_J.Clin.Lipidol_6_244 |
| ESTHER : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedSearch : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedID: 22658148 |
| Gene_locus related to this paper: human-LCAT |
| Title : Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia - Cefalu_2009_J.Clin.Endocrinol.Metab_94_4584 |
| Author(s) : Cefalu AB , Noto D , Arpi ML , Yin F , Spina R , Hilden H , Barbagallo CM , Carroccio A , Tarugi P , Squatrito S , Vigneri R , Taskinen MR , Peterfy M , Averna MR |
| Ref : J Clinical Endocrinology Metab , 94 :4584 , 2009 |
| Abstract : Cefalu_2009_J.Clin.Endocrinol.Metab_94_4584 |
| ESTHER : Cefalu_2009_J.Clin.Endocrinol.Metab_94_4584 |
| PubMedSearch : Cefalu_2009_J.Clin.Endocrinol.Metab_94_4584 |
| PubMedID: 19820022 |
| Title : Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders - Pisciotta_2004_Atherosclerosis_172_309 |
| Author(s) : Pisciotta L , Hamilton-Craig I , Tarugi P , Bellocchio A , Fasano T , Alessandrini P , Bon GB , Siepi D , Mannarino E , Cattin L , Averna M , Cefalu AB , Cantafora A , Calandra S , Bertolini S |
| Ref : Atherosclerosis , 172 :309 , 2004 |
| Abstract : Pisciotta_2004_Atherosclerosis_172_309 |
| ESTHER : Pisciotta_2004_Atherosclerosis_172_309 |
| PubMedSearch : Pisciotta_2004_Atherosclerosis_172_309 |
| PubMedID: 15019541 |