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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
2019 Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F.; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J.; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C.
Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) - Reply
2004 Jass, J. R.; Roncucci, L.; Panz De Leon, M.; Benatti, P.; Borghi, F.; Pedrani, M.; Scarselli, A.; Di Gregorio, Cristina; Losi, L.; Viel, A.; Genuardi, Maurizio; Abbati, G.; Rassi, G.; Menigatti, M.; Panti, G.
Diagnostic and prognostic potential of the proteomic profiling of serum-derived extracellular vesicles in prostate cancer
2021 Signore, M.; Alfonsi, Romina; Federici, G.; Nanni, Simona; Addario, A.; Bertuccini, L.; Aiello, Antimo; Di Pace, A. L.; Sperduti, I.; Muto, G.; Giacobbe, A.; Collura, D.; Brunetto, L.; Simone, G.; Costantini, M.; Crino, L.; Rossi, S.; Tabolacci, C.; Diociaiuti, M.; Merlino, T.; Gallucci, M.; Sentinelli, S.; Papalia, R.; De Maria Marchiano, Ruggero; Bonci, D.
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL
1995 Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G
Different molecular mechanisms underlie genomic deletions in the MLH1 gene
2002 Viel, A; Petronzelli, F; Della Puppa, L; Lucci-Cordisco, E; Fornasarig, M; Pucciarelli, S; Rovella, V; Quaia, M; de Leon, M; Boiocchi, M; Genuardi, Maurizio
DNA Methylation in the Diagnosis of Monogenic Diseases.
2020 Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; Riccio, A.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
1999 Riccio, A; Aaltonen, L; Godwin, A; Loukola, A; Percesepe, A; Salovaara, R; Masciullo, Valeria; Genuardi, Maurizio; Paravatou-Petsotas, M; Bassi, Daniela; Ruggeri, B; Klein-Szanto, A; Testa, J; Neri, G; Bellacosa, A
DOUBLE AUTOSOMAL/GONOSOMAL MOSAIC ANEUPLOIDY - STUDY OF NONDISJUNCTION IN 2 CASES WITH TRISOMY OF CHROMOSOME-8
1995 Debrasi, D; Genuardi, Maurizio; Dagostino, A; Calvieri, F; Tozzi, Claudio; Varrone, S; Neri, G
Dysbiosis, gut microbiota modulation and intestinal permeability in recurrent cystitis patients and concomitant gastrointestinal pathologies
2019 Graziani, Francesca; Scaldaferri, Franco; Talocco, C; Gervasoni, J; Persichilli, Silvia; Primiano, Aniello; Petito, Valentina; Quagliariello, A; Del Chierico, F; Putignani, L; Lopetuso, Loris Riccardo; Urbani, Andrea; Napoli, M; Gasbarrini, Antonio
Editorial: Small ruminant breeding in the age of genomics
2022 Deniskova, Tatiana; Barbato, Mario
Effects of dexamethasone on the growth and epidermal growth factor receptor expression of the OVCA 433 ovarian cancer cells (vol 83, pg 183, 1992)
2006 Ferrandina, G; Scambia, G; Panici, P; Bonanno, G; De Vincenzoa, R; Rumi, C; Bussa, S; Genuardi, M; Spica, V; Mancuso, S
Efficacy of a combination of human recombinant erythropoietin+13-cis-retinoic acid and dihydroxylated vitamin D3 to improve moderate to severe anaemia in low/intermediate risk myelodysplastic syndromes
2009 Ferrero, D; Darbesio, A; Giai, V; Genuardi, Maurizio; Dellacasa, C; Sorasio, R; Bertini, M; Boccadoro, M
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
2019 Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C.; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Passemard, Sandrine; Drunat, Séverine; Verloes, Alain; Horn, Anselm H. C.; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita
Endometrial cancer and somatic G > T KRAS transversion in patients with constitutional MUTYH biallelic mutations
2009 Tricarico, R; Bettiol Furlan, Pierluigi; Ciambotti, B; Di Gregorio, Cristina; Gatteschi, B; Gismondi, V; Toschi, B; Tonelli, F; Varesco, L; Genuardi, Maurizio
Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow
2006 Fatini, C; Sticchi, E; Gensini, F; Genuardi, Maurizio; Tondi, F; Gensini, G; Riviello, C; Parretti, E; Mello, G; Abbate, R
Epidemiologic and genetic factor in colorectal cancer: development of cancer in dizygotic twins in a family with Lynch syndrome
1999 de Leon, M; Pedroni, M; Benatti, P; Percesepe, A; Rossi, G; Genuardi, Maurizio; Roncucci, L
Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y)
2016 Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Botta, Annalisa; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas
2008 Sestini, R; Bacci, C; Provenzano, A; Genuardi, Maurizio; Papi, L
Expression Profile of Long Non-Coding RNAs in Serum of Patients with Multiple Sclerosis.
2016 Santoro, Massimo; Nociti, Viviana; Lucchini, Matteo; De Fino, Chiara; Losavio, Fa; Mirabella, Massimiliano
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16
2007 Malvagia, S; Papi, L; Morrone, A; Donati, M; Ciani, F; Pasquini, E; la Marca, G; Scholte, H; Genuardi, M; Zammarchi, E
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2019 | Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement | Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F.; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J.; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C. | |
1-gen-2004 | Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) - Reply | Jass, J. R.; Roncucci, L.; Panz De Leon, M.; Benatti, P.; Borghi, F.; Pedrani, M.; Scarselli, A.; Di Gregorio, Cristina; Losi, L.; Viel, A.; Genuardi, Maurizio; Abbati, G.; Rassi, G.; Menigatti, M.; Panti, G. | |
1-gen-2021 | Diagnostic and prognostic potential of the proteomic profiling of serum-derived extracellular vesicles in prostate cancer | Signore, M.; Alfonsi, Romina; Federici, G.; Nanni, Simona; Addario, A.; Bertuccini, L.; Aiello, Antimo; Di Pace, A. L.; Sperduti, I.; Muto, G.; Giacobbe, A.; Collura, D.; Brunetto, L.; Simone, G.; Costantini, M.; Crino, L.; Rossi, S.; Tabolacci, C.; Diociaiuti, M.; Merlino, T.; Gallucci, M.; Sentinelli, S.; Papalia, R.; De Maria Marchiano, Ruggero; Bonci, D. | |
1-gen-1995 | DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL | Genuardi, M; Bardoni, B; Floridia, G; Chiurazzi, P; Scarano, G; Zollino, M; Garcea, N; Martinineri, M; Neri, G | |
1-gen-2002 | Different molecular mechanisms underlie genomic deletions in the MLH1 gene | Viel, A; Petronzelli, F; Della Puppa, L; Lucci-Cordisco, E; Fornasarig, M; Pucciarelli, S; Rovella, V; Quaia, M; de Leon, M; Boiocchi, M; Genuardi, Maurizio | |
1-gen-2020 | DNA Methylation in the Diagnosis of Monogenic Diseases. | Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, Fulvia; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, Fiorella; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, Eugenio; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, Elisabetta; Torrente, I; Genuardi, Maurizio; Neri, Giovanni; Riccio, A. | |
1-gen-1999 | The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability | Riccio, A; Aaltonen, L; Godwin, A; Loukola, A; Percesepe, A; Salovaara, R; Masciullo, Valeria; Genuardi, Maurizio; Paravatou-Petsotas, M; Bassi, Daniela; Ruggeri, B; Klein-Szanto, A; Testa, J; Neri, G; Bellacosa, A | |
1-gen-1995 | DOUBLE AUTOSOMAL/GONOSOMAL MOSAIC ANEUPLOIDY - STUDY OF NONDISJUNCTION IN 2 CASES WITH TRISOMY OF CHROMOSOME-8 | Debrasi, D; Genuardi, Maurizio; Dagostino, A; Calvieri, F; Tozzi, Claudio; Varrone, S; Neri, G | |
1-gen-2019 | Dysbiosis, gut microbiota modulation and intestinal permeability in recurrent cystitis patients and concomitant gastrointestinal pathologies | Graziani, Francesca; Scaldaferri, Franco; Talocco, C; Gervasoni, J; Persichilli, Silvia; Primiano, Aniello; Petito, Valentina; Quagliariello, A; Del Chierico, F; Putignani, L; Lopetuso, Loris Riccardo; Urbani, Andrea; Napoli, M; Gasbarrini, Antonio | |
1-gen-2022 | Editorial: Small ruminant breeding in the age of genomics | Deniskova, Tatiana; Barbato, Mario | |
1-gen-2006 | Effects of dexamethasone on the growth and epidermal growth factor receptor expression of the OVCA 433 ovarian cancer cells (vol 83, pg 183, 1992) | Ferrandina, G; Scambia, G; Panici, P; Bonanno, G; De Vincenzoa, R; Rumi, C; Bussa, S; Genuardi, M; Spica, V; Mancuso, S | |
1-gen-2009 | Efficacy of a combination of human recombinant erythropoietin+13-cis-retinoic acid and dihydroxylated vitamin D3 to improve moderate to severe anaemia in low/intermediate risk myelodysplastic syndromes | Ferrero, D; Darbesio, A; Giai, V; Genuardi, Maurizio; Dellacasa, C; Sorasio, R; Bertini, M; Boccadoro, M | |
1-gen-2019 | Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C.; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Passemard, Sandrine; Drunat, Séverine; Verloes, Alain; Horn, Anselm H. C.; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita | |
1-gen-2009 | Endometrial cancer and somatic G > T KRAS transversion in patients with constitutional MUTYH biallelic mutations | Tricarico, R; Bettiol Furlan, Pierluigi; Ciambotti, B; Di Gregorio, Cristina; Gatteschi, B; Gismondi, V; Toschi, B; Tonelli, F; Varesco, L; Genuardi, Maurizio | |
1-gen-2006 | Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow | Fatini, C; Sticchi, E; Gensini, F; Genuardi, Maurizio; Tondi, F; Gensini, G; Riviello, C; Parretti, E; Mello, G; Abbate, R | |
1-gen-1999 | Epidemiologic and genetic factor in colorectal cancer: development of cancer in dizygotic twins in a family with Lynch syndrome | de Leon, M; Pedroni, M; Benatti, P; Percesepe, A; Rossi, G; Genuardi, Maurizio; Roncucci, L | |
1-gen-2016 | Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y) | Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Botta, Annalisa; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella | |
1-gen-2008 | Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas | Sestini, R; Bacci, C; Provenzano, A; Genuardi, Maurizio; Papi, L | |
1-gen-2016 | Expression Profile of Long Non-Coding RNAs in Serum of Patients with Multiple Sclerosis. | Santoro, Massimo; Nociti, Viviana; Lucchini, Matteo; De Fino, Chiara; Losavio, Fa; Mirabella, Massimiliano | |
1-gen-2007 | Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 | Malvagia, S; Papi, L; Morrone, A; Donati, M; Ciani, F; Pasquini, E; la Marca, G; Scholte, H; Genuardi, M; Zammarchi, E |
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