Search Results - "Frisso, G"

Characterization of cholesterol biosynthesis defects: A new case of sterol-c4-methyl oxidase deficiency in Italy by Corso, G, Gelzo, M, Lenza, M.P, Sica, C, Procopio, E, Donati, M.A, Dello Russo, A, Salvatore, F, Frisso, G

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Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population by Simonelli, F, Frisso, G, Testa, F, di Fiore, R, Vitale, D F, Manitto, M P, Brancato, R, Rinaldi, E, Sacchetti, L

“…Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population…”
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A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy by Frisso, G, Limongelli, G, Pacileo, G, Del Giudice, A, Forgione, L, Calabrò, P, Iacomino, M, Detta, N, Di Fonzo, LM, Maddaloni, V, Calabrò, R, Salvatore, F

“…Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiovascular disorder worldwide. It is the leading cause of sudden cardiac‐related death in…”
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Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction by Sarubbi, B, Frisso, G, Romeo, E, Evangelista, E, Cordella, A, D'Alto, M, Santarpia, G, Russo, M.G, Salvatore, F, Calabrò, R

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Analysis of Dystrophin Gene Deletions Indicates that the Hinge III Region of the Protein Correlates with Disease Severity by Carsana, A., Frisso, G., Tremolaterra, M. R., Lanzillo, R., Vitale, D. F., Santoro, L., Salvatore, F.

“…Summary We have investigated the frequency of deletions in the dystrophin gene in 108 unrelated Duchenne and Becker muscular dystrophy (DMD/BMD) patients from…”
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Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy by FRISSO, Giulia, CARSANA, Antonella, TINTO, Nadia, CALCAGNO, Giuseppe, SALVATORE, Francesco, SACCHETTI, Lucia

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Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations by Borrelli, F, Lombardi, R, Canciello, G, Frisso, G, Todde, G, Paoletta, D, Esposito, G, Losi, M A

“…Abstract Background Hypertrophic Cardiomyopathy (HCM) is mainly caused by sarcomeric mutations. In about 40% of cases the causal mutation is unknown…”
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P5722Thermodynamic phenotypes guide the pathogenicity assessment of a variant of uncertain significance in cardiac myosin binding protein C by Pricolo, M R, Herrero-Galan, E, Mazzaccara, C, Losi, M A, Alegre-Cebollada, J, Frisso, G

“…Abstract In the era of Next Generation Sequencing (NGS), genetic testing for inherited disorders identifies an ever-increasing number of variants, whose…”
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Microbial diversity in Natural Whey Cultures used for the production of Caciocavallo Silano PDO cheese by Ercolini, Danilo, Frisso, Giulia, Mauriello, Gianluigi, Salvatore, Francesco, Coppola, Salvatore

“…The microbial diversity of sixty-three Natural Whey Cultures (NWCs) for the manufacture of Caciocavallo Silano cheese PDO was studied. The NWCs were collected…”
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Dystrophinopathy in a young boy with Klinefelter's syndrome by Santoro, L., Pastore, L., Rippa, P. Gasparo, Orsini, A.V.M., Del Giudice, E., Vita, G., Frisso, G., Salvatore, F.

“…We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5‐year‐old boy was affected…”
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Physical Activity and Thrombophilic Risk in a Short Series by Scudiero, Olga, Gentile, Luca, Ranieri, Annaluisa, Coppola, Eduardo, Di Micco, Pierpaolo, Mazzaccara, Cristina, D'alicandro, Giovanni, Leggiero, Eleonora, Frisso, Giulia, Pastore, Lucio, Lombardo, Barbara

“…The role of influence on protein C anticoagulant system and PC deficiency-related thrombophilic risk due to strenuous physical exercise is still under…”
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O direito internacional penal como instrumento de resistência nos tribunais do povo: o Tribunal Internacional para a Aplicação da Justiça Restaurativa em El Salvador by Frisso, G., Giovanna

“…Em 2009, o Tribunal Internacional para a Aplicação da Justiça Restaurativa em El Salvador foi criado pela sociedade civil como uma resposta ao contexto de…”
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O status de vítima no Tribunal Penal Internacional: A importância de uma perspectiva comunicativa by Frisso GM, Giovanna María

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Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy by Frisso, Giulia, Sampaolo, Simone, Pastore, Lucio, Carlomagno, Angelo, Calise, Rosa Maria, Di Iorio, Giuseppe, Salvatore, Francesco

“…Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene…”
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Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy by Pastore, Lucio, Morte, Rossella Della, Frisso, Giulia, Alfinito, Fiorella, Vitale, Domenico, Calise, Rosa Maria, Ferraro, Filomena, Zagari, Adriana, Rotoli, Bruno, Salvatore, Francesco

“…Deficiency of the R‐type pyruvate kinase (R‐PK) causes an autosomal recessive, hereditary, nonspherocytic hemolytic anemia (HNSHA). We screened seven unrelated…”
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A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females by Pastore, Lucio, Caporaso, Maria Gabriella, Frisso, Giulia, Orsini, Anna, Santoro, Lucio, Sacchetti, Lucia, Salvatore, Francesco

“…Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy. In 65% of the patients, the mutations responsible for the disease are…”
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