Search Results - "MISIANO, G"

Genetic epidemiology of ARH in Sicily by 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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Growth factors and IL-17 in hereditary angioedema by Salemi, M., Mandalà, V., Muggeo, V., Misiano, G., Milano, S., Colonna-Romano, G., Arcoleo, F., Cillari, E.

“…Hereditary angioedema (HAE) is a rare autosomal dominant disorder, due to C1-inhibitor deficiency, which causes episodic swellings of subcutaneous tissues,…”
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Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene by 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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Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia identified in the lipigen centre of Palermo by 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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Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene by 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 by 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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Analysis of IL-6, IL-10 and IL-17 genetic polymorphisms as risk factors for sepsis development in burned patients by Accardo Palumbo, A, Forte, G.I, Pileri, D, Vaccarino, L, Conte, F, D’Amelio, L, Palmeri, M, Triolo, A, D’Arpa, N, Scola, L, Misiano, G, Milano, S, Lio, D

“…Abstract Infection risk, sepsis and mortality after severe burn are primarily determined by patient age, burn size, and depth. Whether genetic differences…”
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Differential regulation of Fas-mediated apoptosis in both thyrocyte and lymphocyte cellular compartments correlates with opposite phenotypic manifestations of autoimmune thyroid disease by Giordano, C, Richiusa, P, Bagnasco, M, Pizzolanti, G, Di Blasi, F, Sbriglia, M S, Mattina, A, Pesce, G, Montagna, P, Capone, F, Misiano, G, Scorsone, A, Pugliese, A, Galluzzo, A

“…Several mechanisms are probably involved in determining the evolution of autoimmune thyroid disease (AITD) towards either hypothyroidism and the clinical…”
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Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients by 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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Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n) by SPÄTH, P. J, SJÖHOLM, A. G, WADELIUS, C, TRUEDSSON, L, FREDRIKSON, G. N, MISIANO, G, SCHERZ, R, SCHAAD, U. B, UHRING-LAMBERT, B, HAUPTMANN, G, WESTBERG, J, UHLEN, M

“…Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was < 0.1…”
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C4BQ0: a genetic marker of familial HCV-related liver cirrhosis by Pasta, L, Pietrosi, G, Marrone, C, D’Amico, G, D’Amico, M, Licata, A, Misiano, G, Madonia, S, Mercadante, F, Pagliaro, L

“…Background and methods. Host may have a role in the evolution of chronic HCV liver disease. We performed two cross-sectional prospective studies to evaluate…”
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Next generation sequencing in severe hypertrigliceridemia: Identification of a novel nonsense mutation of CREB3L3 gene by 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 by 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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Uncommon presentation of Cholesteryl Ester Storage Disease (CESD): Description of a case and genetic characterization by next generation sequencing by 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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PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides. An in vitro study by 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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Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patients by 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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Molecular characterization of patients with and without coronary artery disease with “extreme LDL-C phenotypes” by Brucato, F., Martinelli, N., Spina, R., Busti, F., Ingrassia, V., Scrimali, C., Altieri, G.I., Noto, D., Misiano, G., Giammanco, A., Barbagallo, C.M., Fayer, F., Cefalù, A.B., Olivieri, O., Girelli, D., Averna, M.

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Identification Of P.Leu167Del Apoe Gene Mutation By Next Generation Sequencing In A Large Hypercholesterolemic Family by Scrimali, C., Spina, R., Ingrassia, V., Cefalù, A.B., Brucato, F., Misiano, G., Valenti, V., Noto, D., Altieri, G.I., Fayer, F., Giammanco, A., Barbagallo, C., Averna, M.

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Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia by Scrimali, C., Spina, R., Ingrassia, V., Cefalu', A.B., Valenti, V., Altieri, G.I., Noto, D., Brucato, F., Misiano, G., Giammanco, A., Barbagallo, C.M., Ganci, A., Fayer, F., Averna, M.R.

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Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of novel mutations in the APOB gene by Ingrassia, V., Spina, R., Cefalù, A.B., Valenti, V., Altieri, G.I., Scrimali, C., Noto, D., Brucato, F., Misiano, G., Giammanco, A., Ganci, A., Fayer, F., Barbagallo, C.M., Averna, M.R.

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