Genetic epidemiology of ARH in Sicily von Spina, R, Valenti, V, Ingrassia, V, La Spada, M.P, Scrimali, C, Misiano, G, Noto, D, Palesano, O, Altieri, G.I, Licata, V, Fayer, F, Barbagallo, C.M, Cefalù, A.B, Averna, M

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Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene von Ingrassia, V, Zambon, A, Spina, R, Zambon, S, Bertocco, S, Giammanco, A, Cefalù, A.B, Altieri, G.I, Noto, D, Scrimali, C, Misiano, G, Fayer, F, Valenti, V, Ganci, A, Barbagallo, C.M, Averna, M.R

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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing von Spina, R, Cefalu', A.B, Noto, D, Ingrassia, V, Valenti, V, Giammanco, A, Fayer, F, Misiano, G, Scrimali, C, Altieri, G.I, Ganci, A, Barbagallo, C.M, Averna, M.R

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Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia identified in the lipigen centre of Palermo von Giammanco, A, Spina, R, Ingrassia, V, Valenti, V, Scrimali, C, Misiano, G, Altieri, G.I, Fayer, F, Barbagallo, C.M, Ganci, A, Noto, D, Cefalù, A.B, Averna, M.R

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Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene von Altieri, G.I, Spina, R, Noto, D, Ingrassia, V, Valenti, V, Giammanco, A, Fayer, F, Misiano, G, Scrimali, C, Ganci, A, Barbagallo, C.M, Cefalu', A.B, Averna, M.R

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Early leukocytes telomere length shortening in familial hypercholesterolemia von Baragetti, Andrea, Pellegatta, Fabio, Alieva, Asiiat, Olmastroni, Elena, Scrimali, C., Cefalù, A.B., Reutova, Olga, Shlyakhto, Evgeny, Averna, M.R., Catapano, Alberico

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Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects von Brucato, Federica, Cefalù, A.B., Spina, R., Noto, D., Rabacchi, C., Giammanco, Antonina, Simone, M.L., Scrimali, C., Alletti, M. Gueli, Barbagallo, C.M., Tarugi, P., Averna, M.R.

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Identification of CREB3L3 mutations in patients with hypertrigliceridemia von Grazia Fasciana, Teresa Maria, Lanza, M., Brucato, Federica, Scicali, Roberto, Scrimali, C., Noto, D., Giammanco, Antonina, Barbagallo, C.M., Purrello, Francesco, Averna, M.R., Cefalù, A.B.

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Genetic heterogeneity of familial hypercholesterolemia: A case report von Gagliardo, Carola Maria, Giammanco, Antonina, Brucato, Federica, Scrimali, C., Grazia Fasciana, Teresa Maria, Lanza, M., Furnari, Laura, Spina, R., Barbagallo, C.M., Noto, D., Averna, M.R., Cefalù, A.B.

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Identification of a novel nonsense mutation in the APOB gene by next generation sequencing von Lanza, M., Brucato, F., Scrimali, C., Fasciana, T.M.G., Spina, R., Noto, D., Giammanco, A., Barbagallo, C.M., Ganci, A., Cefalù, A.B., Averna, M.

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Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients von Brucato, F., Scrimali, C., Noto, D., Spina, R., Giammanco, A., Barbagallo, C.M., Ganci, A., Misiano, G., Ciaccio, M., Caldarella, R., Cefalù, A.B., Averna, M.

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Lipoprotein(a) distribution among subjects with genetic dyslipidemias: Data from a single center retrospective study von Giammanco, A., Scrimali, C., Brucato, F., Fasciana, T.M.G., Lanza, M., Caldarella, R., Ciaccio, M., Gagliardo, M.C., Barbagallo, C.M., Cefalù, A., Noto, D., Averna, M.

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Diagnosis and management of familial chylomicronemia syndrome in a newborn girl von Lanza, M., Grazia Fasciana, Teresa Maria, Scalzo, A., Scrimali, C., Savarino, G., Brucato, Federica, Insinga, V., Bonacasa, C., Giammanco, Antonina, Barbagallo, C.M., Carta, M., Noto, D., Cefalù, A.B., Giuffré, M., Averna, M.R.

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Management of a patient with delayed diagnosis of homozygous familial hypercholesterolaemia von Giammanco, A., Scicali, R., Scrimali, C., Di Pino, A., Brucato, F., Spina, R., Piro, S., Noto, D., Cefalù, A.B., Purrello, F., Averna, M.

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Novel missense variants in the LMF1 gene: Identification by next generation sequencing and functional characterization von Fasciana, T.M.G., Scrimali, C., Brucato, F., Lanza, M., Pisciotta, L., Gianola, D., Fresa, R., Spina, R., Noto, D., Pavanello, C., Giammanco, A., Barbagallo, C.M., Ganci, A., Zambon, A., Bertolini†, S., Cefalù, A.B., Averna, M.

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Uncommon presentation of Cholesteryl Ester Storage Disease (CESD): Description of a case and genetic characterization by next generation sequencing von Scrimali, C., Brucato, F., Caserta, M., Alletti, M. Gueli, Castana, C., Spina, R., Ingrassia, V., Altieri, G.I., Fayer, F., Noto, D., Misiano, G., Giammanco, A., Barbagallo, C.M., Ganci, A., Piccione, M., Cefalù, A.B., Averna, M.

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Next generation sequencing in severe hypertrigliceridemia: Identification of a novel nonsense mutation of CREB3L3 gene von Brucato, F., Scicali, R., Scrimali, C., Gueli Alletti, M., Spina, R., Ingrassia, V., Altieri, G.I., Noto, D., Misiano, G., Giammanco, A., Barbagallo, C.M., Ganci, A., Cefalù, A.B., Purrello, F., Averna, M.

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Post prandial metabolism of lipoproteins in familial chylomicronemia patients treated with lomitapide and tiparvovec von Alletti, M. Gueli, Brucato, F., Scrimali, C., Spina, R., Ingrassia, V., Altieri, G.I., Fayer, F., Noto, D., Misiano, G., Giammanco, A., Barbagallo, C.M., Ganci, A., Cefalù, A.B., Zambon, A., Averna, M.

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Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patients von Giammanco, A., Scrimali, C., Spina, R., Ingrassia, V., Brucato, F., Valenti, V., Cefalù, A.B., Misiano, G., Altieri, G.I., Noto, D., Barbagallo, C.M., Ganci, A., Fayer, F., Averna, M.

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PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides. An in vitro study von Scrimali, C., Spina, R., Ingrassia, V., Brucato, F., Altieri, G.I., Noto, D., Valenti, V., Misiano, G., Giammanco, A., Fayer, F., Barbagallo, C.M., Ganci, A., Cefalù, A.B., Averna, M.

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