Sfoglia per SSD Settore BIO/18 - GENETICA
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
2018 Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R.
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation
2018 Pollini, Daniele; Loffredo, Rosa; Cardano, Marina; Conti, Luciano; Lattante, Serena; Notarangelo, Angelantonio; Sabatelli, Mario; Provenzani, Alessandro
Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca
2020 Fan, Ruiwen; Gu, Zhongru; Guang, Xuanmin; Marín, Juan Carlos; Varas, Valeria; González, Benito A.; Wheeler, Jane C.; Hu, Yafei; Li, Erli; Sun, Xiaohui; Yang, Xukui; Zhang, Chi; Gao, Wenjun; He, Junping; Munch, Kasper; Corbett-Detig, Russel; Barbato, Mario; Pan, Shengkai; Zhan, Xiangjiang; Bruford, Michael W.; Dong, Changsheng
Genomic signatures of adaptive introgression from European mouflon into domestic sheep
2017 Barbato, Mario; Hailer, Frank; Orozco-Terwengel, Pablo; Kijas, James; Mereu, Paolo; Cabras, Pierangela; Mazza, Raffaele; Pirastru, Monica; Bruford, Michael W.
Genotyping variation among different Italian population of the aphid Myzus persicae
2005 Criniti, Angela; Mazzoni, Emanuele; Pecchioni, N; Cassanelli, Stefano; Bizzaro, Davide; Manicardi, Gian Carlo
Heterochromatin and rDNA localization on the holocentric chromosomes of black bean aphid, Aphis fabae Scop. (Hemiptera: Aphididae)
2009 Rivi, Marco; Cassanelli, Stefano; Mazzoni, Emanuele; Bizzaro, Davide; Manicardi, Gian Carlo
Histone deacetylase 4 protects from denervation and skeletal muscle atrophy in a murine model of amyotrophic lateral sclerosis
2019 Pigna, E.; Simonazzi, E.; Sanna, K.; Bernadzki, K. M.; Proszynski, T.; Heil, C.; Palacios, Daniela; Adamo, S.; Moresi, V.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
2020 Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H
Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes
2015 Cesarini, E.; Mozzetta, C.; Marullo, F.; Gregoretti, F.; Gargiulo, A.; Columbaro, M.; Cortesi, A.; Antonelli, L.; Di Pelino, S.; Squarzoni, S.; Palacios, Daniela; Zippo, A.; Bodega, B.; Oliva, G.; Lanzuolo, C.
Landscape determinants of fine-scale genetic structure of a small rodent in a heterogeneous landscape (Hluhluwe-iMfolozi Park, South Africa)
2016 Russo, Isa-Rita M.; Sole, Catherine L.; Barbato, Mario; Von Bramann, Ullrich; Bruford, Michael W.
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
2013 Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E.
Mitochondrial DNA lineages of Italian Giara and Sarcidano horses
2014 Morelli, L.; Useli, A.; Sanna, D.; Barbato, M.; Contu, D.; Pala, M.; Cancedda, M.; Francalacci, P.
MUTAGENESI IN RICINO (Ricinus communis L.)PER LA SELEZIONE DI LINEE PIU' ADATTE ALLA VALORIZZAZIONE AGRONOMICA
2012 Rossi, Dario
A myopathy with unusual features caused by PNPLA2 gene mutations
2015 Pennisi, Elena Maria; Missaglia, Sara; Dimauro, Salvatore; Bernardi, Cinzia; Akman, Hasan Orhan; Tavian, Daniela
Nanomedicine, a valuable tool for skeletal muscle disorders: Challenges, promises, and limitations
2022 Colapicchioni, V.; Millozzi, F.; Parolini, Ornella; Palacios, Daniela
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis
2016 Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
2021 Brogna, Claudia; Coratti, Giorgia; Rossi, R.; Neri, M.; Messina, S.; Amico, A. D.; Bruno, C.; Lucibello, Simona; Vita, G.; Berardinelli, A.; Magri, F.; Ricci, F.; Pedemonte, M.; Mongini, T.; Battini, Roberta; Bello, L.; Pegoraro, E.; Baranello, Giovanni; Politano, L.; Comi, G. P.; Sansone, V. A.; Albamonte, E.; Donati, A.; Bertini, Enrico Silvio; Goemans, N.; Previtali, S.; Bovis, F.; Pane, Marika; Ferlini, A.; Mercuri, Eugenio Maria
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings
2015 Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado; Moro, Laura; Tavian, Daniela
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2022 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith
Phosphoryl-EZH-ion
2011 Caretti, G.; Palacios, Daniela; Sartorelli, V.; Puri, P. L.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2018 | Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. | Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R. | |
1-gen-2018 | Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation | Pollini, Daniele; Loffredo, Rosa; Cardano, Marina; Conti, Luciano; Lattante, Serena; Notarangelo, Angelantonio; Sabatelli, Mario; Provenzani, Alessandro | |
1-gen-2020 | Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca | Fan, Ruiwen; Gu, Zhongru; Guang, Xuanmin; Marín, Juan Carlos; Varas, Valeria; González, Benito A.; Wheeler, Jane C.; Hu, Yafei; Li, Erli; Sun, Xiaohui; Yang, Xukui; Zhang, Chi; Gao, Wenjun; He, Junping; Munch, Kasper; Corbett-Detig, Russel; Barbato, Mario; Pan, Shengkai; Zhan, Xiangjiang; Bruford, Michael W.; Dong, Changsheng | |
1-gen-2017 | Genomic signatures of adaptive introgression from European mouflon into domestic sheep | Barbato, Mario; Hailer, Frank; Orozco-Terwengel, Pablo; Kijas, James; Mereu, Paolo; Cabras, Pierangela; Mazza, Raffaele; Pirastru, Monica; Bruford, Michael W. | |
1-gen-2005 | Genotyping variation among different Italian population of the aphid Myzus persicae | Criniti, Angela; Mazzoni, Emanuele; Pecchioni, N; Cassanelli, Stefano; Bizzaro, Davide; Manicardi, Gian Carlo | |
1-gen-2009 | Heterochromatin and rDNA localization on the holocentric chromosomes of black bean aphid, Aphis fabae Scop. (Hemiptera: Aphididae) | Rivi, Marco; Cassanelli, Stefano; Mazzoni, Emanuele; Bizzaro, Davide; Manicardi, Gian Carlo | |
1-gen-2019 | Histone deacetylase 4 protects from denervation and skeletal muscle atrophy in a murine model of amyotrophic lateral sclerosis | Pigna, E.; Simonazzi, E.; Sanna, K.; Bernadzki, K. M.; Proszynski, T.; Heil, C.; Palacios, Daniela; Adamo, S.; Moresi, V. | |
1-gen-2020 | An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome | Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H | |
1-gen-2015 | Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes | Cesarini, E.; Mozzetta, C.; Marullo, F.; Gregoretti, F.; Gargiulo, A.; Columbaro, M.; Cortesi, A.; Antonelli, L.; Di Pelino, S.; Squarzoni, S.; Palacios, Daniela; Zippo, A.; Bodega, B.; Oliva, G.; Lanzuolo, C. | |
1-gen-2016 | Landscape determinants of fine-scale genetic structure of a small rodent in a heterogeneous landscape (Hluhluwe-iMfolozi Park, South Africa) | Russo, Isa-Rita M.; Sole, Catherine L.; Barbato, Mario; Von Bramann, Ullrich; Bruford, Michael W. | |
1-gen-2013 | Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis | Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E. | |
1-gen-2014 | Mitochondrial DNA lineages of Italian Giara and Sarcidano horses | Morelli, L.; Useli, A.; Sanna, D.; Barbato, M.; Contu, D.; Pala, M.; Cancedda, M.; Francalacci, P. | |
23-feb-2012 | MUTAGENESI IN RICINO (Ricinus communis L.)PER LA SELEZIONE DI LINEE PIU' ADATTE ALLA VALORIZZAZIONE AGRONOMICA | Rossi, Dario | |
1-gen-2015 | A myopathy with unusual features caused by PNPLA2 gene mutations | Pennisi, Elena Maria; Missaglia, Sara; Dimauro, Salvatore; Bernardi, Cinzia; Akman, Hasan Orhan; Tavian, Daniela | |
1-gen-2022 | Nanomedicine, a valuable tool for skeletal muscle disorders: Challenges, promises, and limitations | Colapicchioni, V.; Millozzi, F.; Parolini, Ornella; Palacios, Daniela | |
1-gen-2016 | New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis | Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena | |
1-gen-2021 | The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy | Brogna, Claudia; Coratti, Giorgia; Rossi, R.; Neri, M.; Messina, S.; Amico, A. D.; Bruno, C.; Lucibello, Simona; Vita, G.; Berardinelli, A.; Magri, F.; Ricci, F.; Pedemonte, M.; Mongini, T.; Battini, Roberta; Bello, L.; Pegoraro, E.; Baranello, Giovanni; Politano, L.; Comi, G. P.; Sansone, V. A.; Albamonte, E.; Donati, A.; Bertini, Enrico Silvio; Goemans, N.; Previtali, S.; Bovis, F.; Pane, Marika; Ferlini, A.; Mercuri, Eugenio Maria | |
1-gen-2015 | Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings | Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado; Moro, Laura; Tavian, Daniela | |
1-gen-2022 | Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita | Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith | |
1-gen-2011 | Phosphoryl-EZH-ion | Caretti, G.; Palacios, Daniela; Sartorelli, V.; Puri, P. L. |
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