Sfoglia per ???browse.type.metadata.subjectErc2011??? LS2 - Genetics, Genomics, Bioinformatics and Systems Biology: genetics, population genetics, molecular genetics, genomics, transcriptomics, proteomics, metabolomics, bioinformatics, computational biology, biostatistics, biological modelling and simulation, systems biology, genetic epidemiology
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
2019 Leoni, C; Onesimo, R; Resta, N; Patti, Maria Letizia; De Santis, Rita; Bagnulo, R; Russo, Luca; Manfredi, R; Genuardi, M; Zampino, G.
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation
2018 Gatto, Antonio; Ferrara, Pietro; Leoni, Chiara; Onesimo, Roberta; Zollino, Marcella; Emma, Francesco; Zampino, Giuseppe
ORAL-FACIAL-SKELETAL SYNDROMES
1995 Neri, G; Gurrieri, Fiorella; Genuardi, Maurizio
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy
2007 Gensini, F; Sestini, R; Piazzini, M; Vignoli, M; Chiarugi, A; Brandani, P; Ghiorzo, P; Salvini, C; Borgognoni, L; Palli, D; Bianchi-Scarra, G; Carli, P; Genuardi, M
Pathogenesis Of Portal Vein Thrombosis In Liver Cirrhosis: The Role of the ADAMTS13/VWF Unbalance
2018 Monica Sacco, Stefano lancellotti; Basso, Maria; De Cristofaro, Raimondo
Patterns of Y-STR variation in Italy
2012 Brisighelli, Francesca; Blanco Verea, A; Boschi, I; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A.
A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease
2019 Peyvandi, Flora; Castaman, Giancarlo; Gresele, Paolo; De Cristofaro, Raimondo; Schinco, Piercarla; Bertomoro, Antonella; Morfini, Massino; Gamba, Gabriella; Barillari, Giovanni; Jiménez-Yuste, Víctor; Königs, Cristoph; Iorio, Alfonso; Federici, Augusto B
Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X
2005 Simi, L; Sestini, R; Ferruzzi, P; Gagliano, M; Gensini, F; Mascalchi, M; Guerrini, L; Pratesi, C; Pinzani, P; Nesi, G; Ercolino, T; Genuardi, Maurizio; Mannelli, M
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
2022 Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D.
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge
2015 Marangi, Giuseppe; Zollino, Marcella
Planning the Human Variome Project: The Spain Report
2009 Kaput, J; Cotton, R; Hardman, L; Watson, M; Al Aqeel, A; Al-Aama, J; Al-Mulla, F; Alonso, S; Aretz, S; Auerbach, A; Bapat, B; Bernstein, I; Bhak, J; Bleoo, S; Blocker, H; Brenner, S; Burn, J; Bustamante, M; Calone, R; Cambon-Thomsen, A; Cargill, M; Carrera, P; Cavedon, L; Cho, Y; Chung, Y; Claustres, M; Cutting, G; Dalgleish, R; den Dunnen, J; Diaz, C; Dobrowolski, S; dos Santos, M; Ekong, R; Flanagan, S; Flicek, P; Furukawa, Y; Genuardi, Maurizio; Ghang, H; Golubenko, M; Greenblatt, M; Hamosh, A; Hancock, J; Hardison, R; Harrison, T; Hoffmann, R; Horaitis, R; Howard, H; Barash, C; Izagirre, N; Jung, J; Kojima, T; Laradi, S; Lee, Y; Lee, J; Gil-da-Silva-Lopes, V; Macrae, F; Maglott, D; Marafie, M; Marsh, S; Matsubara, Y; Messiaen, L; Moslein, G; Netea, M; Norton, M; Oefner, P; Oetting, W; O'Leary, J; de Ramirez, A; Paalman, M; Parboosingh, J; Patrinos, G; Perozzi, G; Phillips, I; Povey, S; Prasad, S; Qi, M; Quinzani, Dario; Ramesar, R; Richards, C; Savige, J; Scheible, D; Scott, R; Seminara, D; Shephard, E; Sijmons, R; Smith, T; Sobrido, M; Tanaka, T; Tavtigian, S; Taylor, G; Teague, J; Topel, T; Ullman-Cullere, M; Utsunomiya, J; van Kranen, H; Vihinen, M; Webb, E; Weber, Bertram; Yeager, M; Yeom, Y; Yim, S; Yoo, H
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
2019 Raveane, A.; Aneli, S.; Montinaro, F.; Athanasiadis, G.; Barlera, S.; Birolo, G.; Boncoraglio, G.; Di Blasio, A. M.; Di Gaetano, C.; Pagani, L.; Parolo, S.; Paschou, P.; Piazza, A.; Stamatoyannopoulos, G.; Angius, A.; Brucato, N.; Cucca, F.; Hellenthal, G.; Mulas, A.; Peyret-Guzzon, M.; Zoledziewska, M.; Baali, A.; Bycroft, C.; Cherkaoui, M.; Chiaroni, J.; Di Cristofaro, J.; Dina, C.; Dugoujon, J. M.; Galan, P.; Giemza, J.; Kivisild, T.; Mazieres, S.; Melhaoui, M.; Metspalu, M.; Myers, S.; Pereira, L.; Ricaut, F. X.; Brisighelli, Francesca; Cardinali, I.; Grugni, V.; Lancioni, H.; Pascali, Vincenzo Lorenzo; Torroni, A.; Semino, O.; Matullo, G.; Achilli, A.; Olivieri, A.; Capelli, C.
Precision trial drawer, a computational tool to assist planning of genomics-driven trials in oncology
2018 Melloni, G. E. M.; Guida, A.; Curigliano, G.; Botteri, E.; Esposito, A.; Kamal, M.; Tourneau, C. L.; Riva, L.; Magi, A.; De Maria Marchiano, Ruggero; Pelicci, P.; Mazzarella, L.
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup
2022 Bruno, W; Dalmasso, B; Barile, M; Andreotti, V; Elefanti, L; Colombino, M; Vanni, I; Allavena, E; Barbero, F; Passoni, E; Merelli, B; Pellegrini, S; Morgese, F; Danesi, R; Calò, V; Bazan, V; D'Elia, Av; Molica, C; Gensini, F; Sala, E; Uliana, V; Soma, Pf; Genuardi, M; Ballestrero, A; Spagnolo, F; Tanda, E; Queirolo, P; Mandalà, M; Stanganelli, I; Palmieri, G; Menin, C
Primary constitutional MLH1 epimutations: a focal epigenetic event
2018 Dámaso, E; Castillejo, A; Arias, Mdm; Canet-Hermida, J; Navarro, M; Del Valle, J; Campos, O; Fernández, A; Marín, F; Turchetti, D; García-Díaz, Jd; Lázaro, C; Genuardi, Maurizio; Rueda, D; Alonso, Á; Soto, Jl; Hitchins, M; Pineda, M; Capellá, G.
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum
2000 de Leon, M; Benatti, P; Pedroni, M; Viel, A; Genuardi, Maurizio; Percesepe, A; Roncucci, L
Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases
2019 Gallotta, Valerio; Conte, Caterina; D'Indinosante, Marco; Capoluongo, E.; Minucci, Angelo; De Rose, A. M.; Ardito, Francesco; Giuliante, Felice; Di Giorgio, A.; Zannoni, Gian Franco; Fagotti, Anna; Margreiter, C.; Scambia, Giovanni; Ferrandina, Maria Gabriella
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
2017 Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; Alsayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; Mcclean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B.
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients
2008 Quaresima, B; Crugliano, T; Gaspari, M; Faniello, M; Cosimo, P; Valanzano, R; Genuardi, Maurizio; Cannataro, M; Veltri, P; Baudi, F; Doldo, P; Cuda, G; Venuta, S; Costanzo, Floriana
PROXIMAL FEMORAL FOCAL DEFICIENCY (PFFD) AND FIBULAR A/HYPOPLASIA (FA/H) - A MODEL OF A DEVELOPMENTAL FIELD DEFECT
1995 Sorge, G; Ardito, S; Genuardi, M; Pavone, V; Rizzo, R; Conti, G; Neri, G; Katz, B; Opitz, J
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2019 | Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. | Leoni, C; Onesimo, R; Resta, N; Patti, Maria Letizia; De Santis, Rita; Bagnulo, R; Russo, Luca; Manfredi, R; Genuardi, M; Zampino, G. | |
| 1-gen-2018 | Oligonephronia and Wolf-Hirschhorn syndrome: A further observation | Gatto, Antonio; Ferrara, Pietro; Leoni, Chiara; Onesimo, Roberta; Zollino, Marcella; Emma, Francesco; Zampino, Giuseppe | |
| 1-gen-1995 | ORAL-FACIAL-SKELETAL SYNDROMES | Neri, G; Gurrieri, Fiorella; Genuardi, Maurizio | |
| 1-gen-2007 | The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy | Gensini, F; Sestini, R; Piazzini, M; Vignoli, M; Chiarugi, A; Brandani, P; Ghiorzo, P; Salvini, C; Borgognoni, L; Palli, D; Bianchi-Scarra, G; Carli, P; Genuardi, M | |
| 1-gen-2018 | Pathogenesis Of Portal Vein Thrombosis In Liver Cirrhosis: The Role of the ADAMTS13/VWF Unbalance | Monica Sacco, Stefano lancellotti; Basso, Maria; De Cristofaro, Raimondo | |
| 1-gen-2012 | Patterns of Y-STR variation in Italy | Brisighelli, Francesca; Blanco Verea, A; Boschi, I; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A. | |
| 1-gen-2019 | A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease | Peyvandi, Flora; Castaman, Giancarlo; Gresele, Paolo; De Cristofaro, Raimondo; Schinco, Piercarla; Bertomoro, Antonella; Morfini, Massino; Gamba, Gabriella; Barillari, Giovanni; Jiménez-Yuste, Víctor; Königs, Cristoph; Iorio, Alfonso; Federici, Augusto B | |
| 1-gen-2005 | Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X | Simi, L; Sestini, R; Ferruzzi, P; Gagliano, M; Gensini, F; Mascalchi, M; Guerrini, L; Pratesi, C; Pinzani, P; Nesi, G; Ercolino, T; Genuardi, Maurizio; Mannelli, M | |
| 1-gen-2022 | Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series | Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D. | |
| 1-gen-2015 | Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge | Marangi, Giuseppe; Zollino, Marcella | |
| 1-gen-2009 | Planning the Human Variome Project: The Spain Report | Kaput, J; Cotton, R; Hardman, L; Watson, M; Al Aqeel, A; Al-Aama, J; Al-Mulla, F; Alonso, S; Aretz, S; Auerbach, A; Bapat, B; Bernstein, I; Bhak, J; Bleoo, S; Blocker, H; Brenner, S; Burn, J; Bustamante, M; Calone, R; Cambon-Thomsen, A; Cargill, M; Carrera, P; Cavedon, L; Cho, Y; Chung, Y; Claustres, M; Cutting, G; Dalgleish, R; den Dunnen, J; Diaz, C; Dobrowolski, S; dos Santos, M; Ekong, R; Flanagan, S; Flicek, P; Furukawa, Y; Genuardi, Maurizio; Ghang, H; Golubenko, M; Greenblatt, M; Hamosh, A; Hancock, J; Hardison, R; Harrison, T; Hoffmann, R; Horaitis, R; Howard, H; Barash, C; Izagirre, N; Jung, J; Kojima, T; Laradi, S; Lee, Y; Lee, J; Gil-da-Silva-Lopes, V; Macrae, F; Maglott, D; Marafie, M; Marsh, S; Matsubara, Y; Messiaen, L; Moslein, G; Netea, M; Norton, M; Oefner, P; Oetting, W; O'Leary, J; de Ramirez, A; Paalman, M; Parboosingh, J; Patrinos, G; Perozzi, G; Phillips, I; Povey, S; Prasad, S; Qi, M; Quinzani, Dario; Ramesar, R; Richards, C; Savige, J; Scheible, D; Scott, R; Seminara, D; Shephard, E; Sijmons, R; Smith, T; Sobrido, M; Tanaka, T; Tavtigian, S; Taylor, G; Teague, J; Topel, T; Ullman-Cullere, M; Utsunomiya, J; van Kranen, H; Vihinen, M; Webb, E; Weber, Bertram; Yeager, M; Yeom, Y; Yim, S; Yoo, H | |
| 1-gen-2019 | Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe | Raveane, A.; Aneli, S.; Montinaro, F.; Athanasiadis, G.; Barlera, S.; Birolo, G.; Boncoraglio, G.; Di Blasio, A. M.; Di Gaetano, C.; Pagani, L.; Parolo, S.; Paschou, P.; Piazza, A.; Stamatoyannopoulos, G.; Angius, A.; Brucato, N.; Cucca, F.; Hellenthal, G.; Mulas, A.; Peyret-Guzzon, M.; Zoledziewska, M.; Baali, A.; Bycroft, C.; Cherkaoui, M.; Chiaroni, J.; Di Cristofaro, J.; Dina, C.; Dugoujon, J. M.; Galan, P.; Giemza, J.; Kivisild, T.; Mazieres, S.; Melhaoui, M.; Metspalu, M.; Myers, S.; Pereira, L.; Ricaut, F. X.; Brisighelli, Francesca; Cardinali, I.; Grugni, V.; Lancioni, H.; Pascali, Vincenzo Lorenzo; Torroni, A.; Semino, O.; Matullo, G.; Achilli, A.; Olivieri, A.; Capelli, C. | |
| 1-gen-2018 | Precision trial drawer, a computational tool to assist planning of genomics-driven trials in oncology | Melloni, G. E. M.; Guida, A.; Curigliano, G.; Botteri, E.; Esposito, A.; Kamal, M.; Tourneau, C. L.; Riva, L.; Magi, A.; De Maria Marchiano, Ruggero; Pelicci, P.; Mazzarella, L. | |
| 1-gen-2022 | Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup | Bruno, W; Dalmasso, B; Barile, M; Andreotti, V; Elefanti, L; Colombino, M; Vanni, I; Allavena, E; Barbero, F; Passoni, E; Merelli, B; Pellegrini, S; Morgese, F; Danesi, R; Calò, V; Bazan, V; D'Elia, Av; Molica, C; Gensini, F; Sala, E; Uliana, V; Soma, Pf; Genuardi, M; Ballestrero, A; Spagnolo, F; Tanda, E; Queirolo, P; Mandalà, M; Stanganelli, I; Palmieri, G; Menin, C | |
| 1-gen-2018 | Primary constitutional MLH1 epimutations: a focal epigenetic event | Dámaso, E; Castillejo, A; Arias, Mdm; Canet-Hermida, J; Navarro, M; Del Valle, J; Campos, O; Fernández, A; Marín, F; Turchetti, D; García-Díaz, Jd; Lázaro, C; Genuardi, Maurizio; Rueda, D; Alonso, Á; Soto, Jl; Hitchins, M; Pineda, M; Capellá, G. | |
| 1-gen-2000 | Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum | de Leon, M; Benatti, P; Pedroni, M; Viel, A; Genuardi, Maurizio; Percesepe, A; Roncucci, L | |
| 1-gen-2019 | Prognostic factors value of germline and somatic brca in patients undergoing surgery for recurrent ovarian cancer with liver metastases | Gallotta, Valerio; Conte, Caterina; D'Indinosante, Marco; Capoluongo, E.; Minucci, Angelo; De Rose, A. M.; Ardito, Francesco; Giuliante, Felice; Di Giorgio, A.; Zannoni, Gian Franco; Fagotti, Anna; Margreiter, C.; Scambia, Giovanni; Ferrandina, Maria Gabriella | |
| 1-gen-2017 | Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases | Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; Alsayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; Mcclean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. | |
| 1-gen-2008 | A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients | Quaresima, B; Crugliano, T; Gaspari, M; Faniello, M; Cosimo, P; Valanzano, R; Genuardi, Maurizio; Cannataro, M; Veltri, P; Baudi, F; Doldo, P; Cuda, G; Venuta, S; Costanzo, Floriana | |
| 1-gen-1995 | PROXIMAL FEMORAL FOCAL DEFICIENCY (PFFD) AND FIBULAR A/HYPOPLASIA (FA/H) - A MODEL OF A DEVELOPMENTAL FIELD DEFECT | Sorge, G; Ardito, S; Genuardi, M; Pavone, V; Rizzo, R; Conti, G; Neri, G; Katz, B; Opitz, J |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile