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Author Report for: Bertolini S

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    Title: Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase
    Pisciotta L, Ossoli A, Ronca A, Garuti A, Fresa R, Favari E, Calabresi L, Calandra S, Bertolini S
    Ref: J Clin Lipidol, :, 2022 : PubMed

            

    Title: Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
    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 : PubMed

            

    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 L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L and Calandra S <7 more author(s)>
    Ref: Atherosclerosis, 265:124, 2017 : PubMed

            

    Title: Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
    Rabacchi C, D'Addato S, Palmisano S, Lucchi T, Bertolini S, Calandra S, Tarugi P
    Ref: J Clin Lipidol, 10:915, 2016 : PubMed

            

    Title: A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
    Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S
    Ref: J Clin Lipidol, 9:265, 2015 : PubMed

            

    Title: Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
    Rabacchi C, Pisciotta L, Cefalu AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S
    Ref: Atherosclerosis, 241:79, 2015 : PubMed

            

    Title: Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion
    Pugni L, Riva E, Pietrasanta C, Rabacchi C, Bertolini S, Pederiva C, Mosca F, Calandra S
    Ref: JIMD Rep, 13:59, 2014 : PubMed

            

    Title: Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction
    Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Coric M, Calandra S and Ros E <2 more author(s)>
    Ref: Atherosclerosis, 235:21, 2014 : PubMed

            

    Title: Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations
    Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H and Assmann G <1 more author(s)>
    Ref: Nutr Metab Cardiovasc Dis, 23:732, 2013 : PubMed

            

    Title: A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment
    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 : PubMed

            

    Title: Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
    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 : PubMed

            

    Title: Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
    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 : PubMed

            

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

            

    Title: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
    Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G and Franceschini G <17 more author(s)>
    Ref: Arterioscler Thromb Vasc Biol, 25:1972, 2005 : PubMed

            

    Title: A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene
    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 : PubMed

            

    Title: Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
    Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E and Bertolini S <5 more author(s)>
    Ref: Atherosclerosis, 172:309, 2004 : PubMed

            

    Title: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations
    Sessa A, Battini G, Meroni M, Daidone G, Carnera I, Brambilla PL, Vigano G, Giordano F, Pallotti F and Bertolini S <3 more author(s)>
    Ref: Nephron, 88:268, 2001 : PubMed

            

    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 S, Simone ML, Pes GM, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S
    Ref: Clin Genet, 57:140, 2000 : PubMed

            


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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