Bertolini S

References (18)

Title : Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase - Pisciotta_2022_J.Clin.Lipidol_S1933-2874_00235
Author(s) : Pisciotta L , Ossoli A , Ronca A , Garuti A , Fresa R , Favari E , Calabresi L , Calandra S , Bertolini S
Ref : J Clin Lipidol , : , 2022
Abstract :
PubMedSearch : Pisciotta_2022_J.Clin.Lipidol_S1933-2874_00235
PubMedID: 36002365
Gene_locus related to this paper: human-LIPG

Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124
Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S
Ref : Atherosclerosis , 265 :124 , 2017
Abstract :
PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124
PubMedID: 28881270
Gene_locus related to this paper: human-LIPA

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 :
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 :
PubMedSearch : Rabacchi_2016_J.Clin.Lipidol_10_915
PubMedID: 27578123

Title : A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene - Buonuomo_2015_J.Clin.Lipidol_9_265
Author(s) : Buonuomo PS , Bartuli A , Rabacchi C , Bertolini S , Calandra S
Ref : J Clin Lipidol , 9 :265 , 2015
Abstract :
PubMedSearch : Buonuomo_2015_J.Clin.Lipidol_9_265
PubMedID: 25911085

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 :
PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79
PubMedID: 25966443
Gene_locus related to this paper: human-LPL

Title : Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion - Pugni_2014_JIMD.Rep_13_59
Author(s) : Pugni L , Riva E , Pietrasanta C , Rabacchi C , Bertolini S , Pederiva C , Mosca F , Calandra S
Ref : JIMD Rep , 13 :59 , 2014
Abstract :
PubMedSearch : Pugni_2014_JIMD.Rep_13_59
PubMedID: 24142281

Title : Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction - Reiner_2014_Atherosclerosis_235_21
Author(s) : Reiner Z , Guardamagna O , Nair D , Soran H , Hovingh K , Bertolini S , Jones S , Coric M , Calandra S , Hamilton J , Eagleton T , Ros E
Ref : Atherosclerosis , 235 :21 , 2014
Abstract :
PubMedSearch : Reiner_2014_Atherosclerosis_235_21
PubMedID: 24792990
Gene_locus related to this paper: human-LIPA

Title : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732
Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G
Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013
Abstract :
PubMedSearch : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732
PubMedID: 22795295
Gene_locus related to this paper: human-LIPA

Title : A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment - Stefanutti_2013_Atheroscler.Suppl_14_73
Author(s) : Stefanutti C , Gozzer M , Pisciotta L , D'Eufemia P , Bosco G , Morozzi C , Papadia F , Shafii M , Di Giacomo S , Bertolini S
Ref : Atheroscler Suppl , 14 :73 , 2013
Abstract :
PubMedSearch : Stefanutti_2013_Atheroscler.Suppl_14_73
PubMedID: 23357145
Gene_locus related to this paper: human-LPL

Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450
Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S
Ref : Mol Genet Metab , 105 :450 , 2012
Abstract :
PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450
PubMedID: 22227072
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143
Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S
Ref : Mol Genet Metab , 97 :143 , 2009
Abstract :
PubMedSearch : Pisciotta_2009_Mol.Genet.Metab_97_143
PubMedID: 19307143
Gene_locus related to this paper: human-LIPA

Title : Molecular characterization of two patients with severe LCAT deficiency -
Author(s) : Charlton-Menys V , Pisciotta L , Durrington PN , Neary R , Short CD , Calabresi L , Calandra S , Bertolini S
Ref : Nephrol Dial Transplant , 22 :2379 , 2007
PubMedID: 17526537

Title : The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families - Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972
Author(s) : Calabresi L , Pisciotta L , Costantin A , Frigerio I , Eberini I , Alessandrini P , Arca M , Bon GB , Boscutti G , Busnach G , Frasca G , Gesualdo L , Gigante M , Lupattelli G , Montali A , Pizzolitto S , Rabbone I , Rolleri M , Ruotolo G , Sampietro T , Sessa A , Vaudo G , Cantafora A , Veglia F , Calandra S , Bertolini S , Franceschini G
Ref : Arterioscler Thromb Vasc Biol , 25 :1972 , 2005
Abstract :
PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972
PubMedID: 15994445

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 :
PubMedSearch : Pisciotta_2004_Atherosclerosis_172_309
PubMedID: 15019541

Title : A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene -
Author(s) : Frasca GM , Soverini L , Tampieri E , Franceschini G , Calabresi L , Pisciotta L , Preda P , Vangelista A , Stefoni S , Bertolini S
Ref : Nephrol Dial Transplant , 19 :1622 , 2004
PubMedID: 15150357

Title : Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations - Sessa_2001_Nephron_88_268
Author(s) : Sessa A , Battini G , Meroni M , Daidone G , Carnera I , Brambilla PL , Vigano G , Giordano F , Pallotti F , Torri Tarelli L , Calabresi L , Rolleri M , Bertolini S
Ref : Nephron , 88 :268 , 2001
Abstract :
PubMedSearch : Sessa_2001_Nephron_88_268
PubMedID: 11423760

Title : Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)) - Bertolini_2000_Clin.Genet_57_140
Author(s) : Bertolini S , Simone ML , Pes GM , Ghisellini M , Rolleri M , Bellocchio A , Elicio N , Masturzo P , Calandra S
Ref : Clin Genet , 57 :140 , 2000
Abstract :
PubMedSearch : Bertolini_2000_Clin.Genet_57_140
PubMedID: 10735636
Gene_locus related to this paper: human-LPL