Search Results - "Benedicenti, F"

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus by Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P

“…Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of…”
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Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy by Lattanzi, Annalisa, Salvagno, Camilla, Maderna, Claudio, Benedicenti, Fabrizio, Morena, Francesco, Kulik, Willem, Naldini, Luigi, Montini, Eugenio, Martino, Sabata, Gritti, Angela

“…Globoid cell leukodystrophy (GLD) is an inherited lysosomal storage disease caused by β-galactocerebrosidase (GALC) deficiency. Gene therapy (GT) should…”
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Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation by Parmeggiani, L, Stanzial, F, Menna, E, Boni, E, Manzoni, F, Benedicenti, F, Pellegrin, S

“…Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system,…”
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Shedding of clinical-grade lentiviral vectors is not detected in a gene therapy setting by Cesani, M, Plati, T, Lorioli, L, Benedicenti, F, Redaelli, D, Dionisio, F, Biasco, L, Montini, E, Naldini, L, Biffi, A

“…Gene therapy using viral vectors that stably integrate into ex vivo cultured cells holds great promises for the treatment of monogenic diseases as well as…”
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Preclinical evaluation of donor-derived sleeping beauty modified CD19CAR+ lymphocytes for the treatment of acute lymphoblastic leukemia by Magnani, C, Mezzanotte, C, Cappuzzello, C, Benedicenti, F, Belotti, D, Cabiati, B, Bardini, M, Fazio, G, Cazzaniga, G, Cooper, L, Montini, E, Gaipa, G, Biondi, A, Biagi, E

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An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps by Fanin, M, Benedicenti, F, Fritegotto, C, Nascimbeni, AC, Peterle, E, Stanzial, F, Cristofoletti, A, Castellan, C, Angelini, C

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Cytokine-induced killer (CIK) cells engineered with chimeric antigen receptors (CARs) by sleeping beauty system by Magnani, C, Turazzi, N, Benedicenti, F, Tettamanti, S, Attianese, G. Giordano, Rossi, V, Montini, E, Cooper, L, Aiuti, A, Biondi, A, Biagi, E

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Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent by Di Pierro, Elena, Brancaleoni, V, Stanzial, F, Benedicenti, F, Castellan, C, Cappellini, M D

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OC.02.3: EFFICACY OF A DESIGNED KIT FOR THE DIAGNOSIS OF NONCELIAC GLUTEN SENSITIVITYAND GLUTEN-RELATED SYMPTOMS by Elli, L., Bascuñán, K.A., Costantino, A., Benedicenti, F., Doneda, L., Scricciolo, A., Lombardo, V., Roncoroni, L.

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OC.01.6: COLD SNARE POLYPECTOMY IN THE MANAGEMENT OF DUODENAL ADENOMA IN FAMILIAL ADENOMATOUS POLYPOSIS by Cavalcoli, F., Magarotto, A., Emanuele, R., Rosa, R., Borsotti, E., Mancini, A., Benedicenti, F., Lauricella, S., Vitellaro, M., Cantù, P.

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Liver-directed lentiviral gene therapy in a dog model of hemophilia B by Cantore, Alessio, Ranzani, Marco, Bartholomae, Cynthia C, Volpin, Monica, Valle, Patrizia Della, Sanvito, Francesca, Sergi, Lucia Sergi, Gallina, Pierangela, Benedicenti, Fabrizio, Bellinger, Dwight, Raymer, Robin, Merricks, Elizabeth, Bellintani, Francesca, Martin, Samia, Doglioni, Claudio, D'Angelo, Armando, VandenDriessche, Thierry, Chuah, Marinee K, Schmidt, Manfred, Nichols, Timothy, Montini, Eugenio, Naldini, Luigi

“…We investigated the efficacy of liver-directed gene therapy using lentiviral vectors in a large animal model of hemophilia B and evaluated the risk of…”
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Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) by Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli, Maria Chiara, Cannavò, Salvo, Isidori, Andrea M, Pincelli, Angela Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda, Maria Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca

“…Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell…”
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Dietary Fiber and Fructooligosaccharides (FOS) intake in adult patients with inflammatory bowel by Scricciolo, A., Bascunan, K., Araya, M., Lombardo, V., Costantino, A., Benedicenti, F., Elli, L., Caprioli, F., Tontini, G.E., Vecchi, M., Doneda, L., Roncoroni, L.

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28 - Preclinical evaluation of donor-derived sleeping beauty modified CD19CAR+ lymphocytes for the treatment of acute lymphoblastic leukemia by Magnani, C., Mezzanotte, C., Cappuzzello, C., Benedicenti, F., Belotti, D., Cabiati, B., Bardini, M., Fazio, G., Cazzaniga, G., Cooper, L., Montini, E., Gaipa, G., Biondi, A., Biagi, E.

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Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells by De Palma, Michele, Montini, Eugenio, de Sio, Francesca R.Santoni, Benedicenti, Fabrizio, Gentile, Alessandra, Medico, Enzo, Naldini, Luigi

“…Recent reports have indicated that human immunodeficiency virus (HIV) and murine leukemia virus (MLV) vectors preferentially integrate into active genes. Here,…”
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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies by Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Luigi Ardissino, Gian, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Penzien, Johannes, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G, Attie-Bitach, Tania, Valente, Enza Maria

“…Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related…”
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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement by Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D'Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D, Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria

“…The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis…”
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Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries by Wiesel, A., Queisser-Luft, A., Clementi, M., Bianca, S., Stoll, C.

“…The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to…”
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Efficient Tet-Dependent Expression of Human Factor IX in Vivo by a New Self-Regulating Lentiviral Vector by Vigna, Elisa, Amendola, Mario, Benedicenti, Fabrizio, Simmons, Andrew D., Follenzi, Antonia, Naldini, Luigi

“…Regulation of gene expression represents a long-sought goal of gene therapy. However, most viral vectors pose constraints on the incorporation of…”
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Expanding CEP290 mutational spectrum in ciliopathies by Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

“…Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of…”
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