Sfoglia per Titolo
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene
1997-01-01 C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis
1997-01-01 Saad, F. A.; Mostacciuolo, M. L.; Trevisan, C. P.; Tomelleri, Giuliano; Angelini, C.; Abdel Salam, E.; Danieli, G. A.
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean
2006-01-01 Cannelli, N.; Cassandrini, D.; Bertini, E.; Striano, P.; Fusco, L.; Gaggero, R.; Specchio, N.; Biancheri, R.; Vigevano, F.; Bruno, C.; Simonati, Alessandro; Zara, F.; Santorelli, F. M.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing
2016-01-01 Kancheva, Daliya; Atkinson, Derek; De Rijk, Peter; Zimon, Magdalena; Chamova, Teodora; Mitev, Vanyo; Yaramis, Ahmet; Fabrizi, Gian Maria; Topaloglu, Haluk; Tournev, Ivailo; Parma, Yesim; Battaloglu, Esra; Estrada Cuzcano, Alejandro; Jordanova, Albena
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes
2007-01-01 Fava, Cristiano; Montagnana, Martina; L., Rosberg; P., Burri; A., Jönsson; P., Wanby; H., Wahrenberg; U. L., Hulthén; M., Aurell; Guidi, Giancesare; O., Melander
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
2012-01-01 Fasano, T; Zanoni, P; Rabacchi, C; Pisciotta, L; Favari, E; Adorni, Mp; Deegan, Pb; Park, A; Hlaing, T; Feher, Md; Jones, B; Uzak, As; Kardas, F; Dardis, A; Sechi, A; Bembi, B; Minuz, Pietro; Bertolini, S; Bernini, F; Calandra, S.
A novel mycobacterial Hsp70-containing fusion protein targeting mesothelin augments antitumor immunity and prolongs survival in murine models of ovarian cancer and mesothelioma
2014-01-01 Yuan, J.; Kashiwagi, S.; Reeves, P.; Nezivar, J.; Yang, Y.; Arrifin, N. H.; Nguyen, M.; Jean-Mary, G.; Tong, X.; Uppal, P.; Korochkina, S.; Forbes, B.; Chen, T.; Righi, E.; Bronson, R.; Chen, H.; Orsulic, S.; Brauns, T.; Leblanc, P.; Scholler, N.; Dranoff, G.; Gelfand, J.; Poznansky, M. C.
A Novel Nomogram to Predict the Prognosis of Patients Undergoing Liver Resection for Neuroendocrine Liver Metastasis: an Analysis of the Italian Neuroendocrine Liver Metastasis Database
2017-01-01 Ruzzenente, Andrea; Bagante, Fabio; Bertuzzo, Francesca; Aldrighetti, Luca; Ercolani, Giorgio; Giuliante, Felice; Ferrero, Alessandro; Torzilli, Guido; Grazi, Gian Luca; Ratti, Francesca; Cucchetti, Alessandro; De Rose, Agostino M; Russolillo, Nadia; Cimino, Matteo; Perri, Pasquale; Cataldo, Ivana; Scarpa, Aldo; Guglielmi, Alfredo; Iacono, Calogero
Novel non-MRI imaging techniques for primary diagnosis of prostate cancer: micro-ultrasound, contrast-enhanced ultrasound, elastography, multiparametric ultrasound, and PSMA PET/CT
2024-01-01 Ditonno, Francesco; Franco, Antonio; Manfredi, Celeste; Veccia, Alessandro; Valerio, Massimo; Bukavina, Laura; Zukowski, Lucas B; Vourganti, Srinivas; Stenzl, Arnuf; Andriole, Gerald L; Antonelli, Alessandro; De Nunzio, Cosimo; Autorino, Riccardo
Novel nuclear ribonucleoprotein structural components in the dormouse adrenal cortex during hibernation
1995-01-01 Malatesta, M.; Zancanaro, C.; Tamburini, M.; Martin, T. E.; Fu, X. -D.; Vogel, P.; Fakan, S.
A novel online prognostic tool to predict long-term survival after liver resection for intrahepatic cholangiocarcinoma: The "metro-ticket" paradigm
2019-01-01 Sahara, Kota; Tsilimigras, Diamantis I; Mehta, Rittal; Bagante, Fabio; Guglielmi, Alfredo; Aldrighetti, Luca; Alexandrescu, Sorin; Marques, Hugo P; Shen, Feng; Koerkamp, Bas G; Endo, Itaru; Pawlik, Timothy M
Novel Opportunities for Improving the Quality of Preanalytical Phase. A Glimpse to the Future?
2017-01-01 Lippi, Giuseppe; Cadamuro, Janne
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life
2016-01-01 Padua, L; Pazzaglia, C; Pareyson, D; Schenone, A; Aiello, A; Fabrizi, Gian Maria; Cavallaro, Tiziana; Santoro, L; Manganelli, F; Gemignani, F; Vitetta, F; Quattrone, A; Mazzeo, A; Russo, M; Vita, G.
A novel P nanofertilizer has no impacts on soil microbial communities and soil microbial activity
2022-01-01 Ciurli, A; Giagnoni, L; Pastorelli, R; Sega, D; Zamboni, A; Renella, G; Varanini, Z
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors
2018-01-01 Marino, Valerio; Dal Cortivo, Giuditta; Oppici, Elisa; Maltese, Paolo Enrico; D'Esposito, Fabiana; Manara, Elena; Ziccardi, Lucia; Falsini, Benedetto; Magli, Adriano; Bertelli, Matteo; Dell'Orco, Daniele
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
2022-01-01 Bisello, Giovanni; Kusmierska, Katarzyna; Verbeek, Marcel M; Sykut-Cegielska, Jolanta; Willemsen, Michèl A A P; Wevers, Ron A; Szymańska, Krystyna; Poznanski, Jarosław; Drozak, Jakub; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Bertoldi, Mariarita
A novel pathway for metabolism of the cardiovascular risk factor homoarginine by alanine:glyoxylate aminotransferase 2
2016-01-01 Rodionov, Roman N.; Oppici, Elisa; Martens Lobenhoffer, Jens; Jarzebska, Natalia; Brilloff, Silke; Burdin, Dmitrii; Demyanov, Anton; Kolouschek, Anne; Leiper, James; Maas, Renke; Cellini, Barbara; Weiss, Norbert; Bode Böger, Stefanie M.
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
2013-01-01 Licchetta, L; Pippucci, T; Bisulli, F; Cantalupo, Gaetano; Magini, P; Alvisi, L; Baldassari, S; Martinelli, P; Naldi, I; Vanni, N; Liguori, R; Seri, M; Tinuper, P.
A novel Penicillium sumatraense isolate reveals an arsenal of degrading enzymes exploitable in algal bio-refinery processes
2021-01-01 Giovannoni, M; Larini, I; Scafati, V; Scortica, A; Compri, M; Pontiggia, D; Zapparoli, G; Vitulo, N; Benedetti, M; Mattei, B
Novel potential treatments in the challenging scenario of drug resistance in pancreatic ductal adenocarcinoma
2022-01-01 Masetto, Francesca
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene | 1-gen-1997 | C., Perusi; Gomez, Maria Macarena; Mottes, Monica; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro | |
| Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis | 1-gen-1997 | Saad, F. A.; Mostacciuolo, M. L.; Trevisan, C. P.; Tomelleri, Giuliano; Angelini, C.; Abdel Salam, E.; Danieli, G. A. | |
| Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean | 1-gen-2006 | Cannelli, N.; Cassandrini, D.; Bertini, E.; Striano, P.; Fusco, L.; Gaggero, R.; Specchio, N.; Biancheri, R.; Vigevano, F.; Bruno, C.; Simonati, Alessandro; Zara, F.; Santorelli, F. M. | |
| Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing | 1-gen-2016 | Kancheva, Daliya; Atkinson, Derek; De Rijk, Peter; Zimon, Magdalena; Chamova, Teodora; Mitev, Vanyo; Yaramis, Ahmet; Fabrizi, Gian Maria; Topaloglu, Haluk; Tournev, Ivailo; Parma, Yesim; Battaloglu, Esra; Estrada Cuzcano, Alejandro; Jordanova, Albena | |
| Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes | 1-gen-2007 | Fava, Cristiano; Montagnana, Martina; L., Rosberg; P., Burri; A., Jönsson; P., Wanby; H., Wahrenberg; U. L., Hulthén; M., Aurell; Guidi, Giancesare; O., Melander | |
| Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency | 1-gen-2012 | Fasano, T; Zanoni, P; Rabacchi, C; Pisciotta, L; Favari, E; Adorni, Mp; Deegan, Pb; Park, A; Hlaing, T; Feher, Md; Jones, B; Uzak, As; Kardas, F; Dardis, A; Sechi, A; Bembi, B; Minuz, Pietro; Bertolini, S; Bernini, F; Calandra, S. | |
| A novel mycobacterial Hsp70-containing fusion protein targeting mesothelin augments antitumor immunity and prolongs survival in murine models of ovarian cancer and mesothelioma | 1-gen-2014 | Yuan, J.; Kashiwagi, S.; Reeves, P.; Nezivar, J.; Yang, Y.; Arrifin, N. H.; Nguyen, M.; Jean-Mary, G.; Tong, X.; Uppal, P.; Korochkina, S.; Forbes, B.; Chen, T.; Righi, E.; Bronson, R.; Chen, H.; Orsulic, S.; Brauns, T.; Leblanc, P.; Scholler, N.; Dranoff, G.; Gelfand, J.; Poznansky, M. C. | |
| A Novel Nomogram to Predict the Prognosis of Patients Undergoing Liver Resection for Neuroendocrine Liver Metastasis: an Analysis of the Italian Neuroendocrine Liver Metastasis Database | 1-gen-2017 | Ruzzenente, Andrea; Bagante, Fabio; Bertuzzo, Francesca; Aldrighetti, Luca; Ercolani, Giorgio; Giuliante, Felice; Ferrero, Alessandro; Torzilli, Guido; Grazi, Gian Luca; Ratti, Francesca; Cucchetti, Alessandro; De Rose, Agostino M; Russolillo, Nadia; Cimino, Matteo; Perri, Pasquale; Cataldo, Ivana; Scarpa, Aldo; Guglielmi, Alfredo; Iacono, Calogero | |
| Novel non-MRI imaging techniques for primary diagnosis of prostate cancer: micro-ultrasound, contrast-enhanced ultrasound, elastography, multiparametric ultrasound, and PSMA PET/CT | 1-gen-2024 | Ditonno, Francesco; Franco, Antonio; Manfredi, Celeste; Veccia, Alessandro; Valerio, Massimo; Bukavina, Laura; Zukowski, Lucas B; Vourganti, Srinivas; Stenzl, Arnuf; Andriole, Gerald L; Antonelli, Alessandro; De Nunzio, Cosimo; Autorino, Riccardo | |
| Novel nuclear ribonucleoprotein structural components in the dormouse adrenal cortex during hibernation | 1-gen-1995 | Malatesta, M.; Zancanaro, C.; Tamburini, M.; Martin, T. E.; Fu, X. -D.; Vogel, P.; Fakan, S. | |
| A novel online prognostic tool to predict long-term survival after liver resection for intrahepatic cholangiocarcinoma: The "metro-ticket" paradigm | 1-gen-2019 | Sahara, Kota; Tsilimigras, Diamantis I; Mehta, Rittal; Bagante, Fabio; Guglielmi, Alfredo; Aldrighetti, Luca; Alexandrescu, Sorin; Marques, Hugo P; Shen, Feng; Koerkamp, Bas G; Endo, Itaru; Pawlik, Timothy M | |
| Novel Opportunities for Improving the Quality of Preanalytical Phase. A Glimpse to the Future? | 1-gen-2017 | Lippi, Giuseppe; Cadamuro, Janne | |
| Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life | 1-gen-2016 | Padua, L; Pazzaglia, C; Pareyson, D; Schenone, A; Aiello, A; Fabrizi, Gian Maria; Cavallaro, Tiziana; Santoro, L; Manganelli, F; Gemignani, F; Vitetta, F; Quattrone, A; Mazzeo, A; Russo, M; Vita, G. | |
| A novel P nanofertilizer has no impacts on soil microbial communities and soil microbial activity | 1-gen-2022 | Ciurli, A; Giagnoni, L; Pastorelli, R; Sega, D; Zamboni, A; Renella, G; Varanini, Z | |
| A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors | 1-gen-2018 | Marino, Valerio; Dal Cortivo, Giuditta; Oppici, Elisa; Maltese, Paolo Enrico; D'Esposito, Fabiana; Manara, Elena; Ziccardi, Lucia; Falsini, Benedetto; Magli, Adriano; Bertelli, Matteo; Dell'Orco, Daniele | |
| The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role | 1-gen-2022 | Bisello, Giovanni; Kusmierska, Katarzyna; Verbeek, Marcel M; Sykut-Cegielska, Jolanta; Willemsen, Michèl A A P; Wevers, Ron A; Szymańska, Krystyna; Poznanski, Jarosław; Drozak, Jakub; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Bertoldi, Mariarita | |
| A novel pathway for metabolism of the cardiovascular risk factor homoarginine by alanine:glyoxylate aminotransferase 2 | 1-gen-2016 | Rodionov, Roman N.; Oppici, Elisa; Martens Lobenhoffer, Jens; Jarzebska, Natalia; Brilloff, Silke; Burdin, Dmitrii; Demyanov, Anton; Kolouschek, Anne; Leiper, James; Maas, Renke; Cellini, Barbara; Weiss, Norbert; Bode Böger, Stefanie M. | |
| A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. | 1-gen-2013 | Licchetta, L; Pippucci, T; Bisulli, F; Cantalupo, Gaetano; Magini, P; Alvisi, L; Baldassari, S; Martinelli, P; Naldi, I; Vanni, N; Liguori, R; Seri, M; Tinuper, P. | |
| A novel Penicillium sumatraense isolate reveals an arsenal of degrading enzymes exploitable in algal bio-refinery processes | 1-gen-2021 | Giovannoni, M; Larini, I; Scafati, V; Scortica, A; Compri, M; Pontiggia, D; Zapparoli, G; Vitulo, N; Benedetti, M; Mattei, B | |
| Novel potential treatments in the challenging scenario of drug resistance in pancreatic ductal adenocarcinoma | 1-gen-2022 | Masetto, Francesca |
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