Sfoglia per Autore
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.
2019-01-01 Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
2019-01-01 Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F.
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
2019-01-01 Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A.
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization
2019-01-01 Carli D.; Ferrero G.B.; Mussa A.
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
2019-01-01 Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M.
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome
2019-01-01 Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista
Syndromic Disorders Caused by Disturbed Human Imprinting
2019-01-01 Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
2018-01-01 Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome
2018-01-01 gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele
2018-01-01 Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista
Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect
2018-01-01 Manzoni, Paolo*; García Sánchez, Ruben; Meyer, Michael; Stolfi, Ilaria; Pugni, Lorenza; Messner, Hubert; Cattani, Silvia; Betta, Pasqua Maria; Memo, Luigi; Decembrino, Lidia; Bollani, Lina; Rinaldi, Matteo; Fioretti, Maria; Quercia, Michele; Maule, Milena; Tavella, Elena; Mussa, Alessandro; Tzialla, Chryssoula; Laforgia, Nicola; Mosca, Fabio; Magaldi, Rosario; Mostert, Michael; Farina, Daniele
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply
2018-01-01 Brioude, Frédéric; Hennekam, Raoul; Bliek, Jet; Coze, Carole; Eggermann, Thomas; Ferrero, Giovanni B; Kratz, Christian; Bouc, Yves Le; Maas, Saskia M; Mackay, Deborah J G; Maher, Eamonn R; Mussa, Alessandro; Netchine, Irene
Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS])
2018-01-01 Carbonell-Estrany X.; Dall'Agnola A.; Fullarton J.R.; Rodgers-Gray B.S.; Girardi E.; Mussa A.; Paniagua N.; Pieretto M.; Rodriguez-Fernandez R.; Manzoni P.
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome
2017-01-01 Mussa, Alessandro; Ferrero, Giovanni Battista
Nomenclature and definition in asymmetric regional body overgrowth
2017-01-01 Kalish, Jennifer M; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare-Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez-Agosto, Julian A.; Mussa, Alessandro; Robinson, Peter; Russo, Silvia; Selicorni, Angelo; Hennekam, Raoul C.
Constitutional bone impairment in Noonan syndrome
2017-01-01 Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients
2017-01-01 Montin, Davide; Licciardi, Francesco; Giorgio, Elisa; Ciolfi, Andrea; Pizzi, Simone; Mussa, Alessandro; Meazza, Raffaella; Tartaglia, Marco; Brusco, Alfredo; Pende, Daniela; Ferrero, Giovanni Battista
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
2017-01-01 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome
2016-01-01 Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. | 2019 | Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB | |
| Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus | 2019 | Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F. | |
| Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome | 2019 | Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A. | |
| Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization | 2019 | Carli D.; Ferrero G.B.; Mussa A. | |
| The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum | 2019 | Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M. | |
| Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome | 2019 | Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista | |
| Syndromic Disorders Caused by Disturbed Human Imprinting | 2019 | Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement | 2018 | Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R | |
| Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome | 2018 | gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista | |
| Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele | 2018 | Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect | 2018 | Manzoni, Paolo*; García Sánchez, Ruben; Meyer, Michael; Stolfi, Ilaria; Pugni, Lorenza; Messner, Hubert; Cattani, Silvia; Betta, Pasqua Maria; Memo, Luigi; Decembrino, Lidia; Bollani, Lina; Rinaldi, Matteo; Fioretti, Maria; Quercia, Michele; Maule, Milena; Tavella, Elena; Mussa, Alessandro; Tzialla, Chryssoula; Laforgia, Nicola; Mosca, Fabio; Magaldi, Rosario; Mostert, Michael; Farina, Daniele | |
| Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply | 2018 | Brioude, Frédéric; Hennekam, Raoul; Bliek, Jet; Coze, Carole; Eggermann, Thomas; Ferrero, Giovanni B; Kratz, Christian; Bouc, Yves Le; Maas, Saskia M; Mackay, Deborah J G; Maher, Eamonn R; Mussa, Alessandro; Netchine, Irene | |
| Interaction between healthcare professionals and parents is a key determinant of parental distress during childhood hospitalisation for respiratory syncytial virus infection (European RSV Outcomes Study [EROS]) | 2018 | Carbonell-Estrany X.; Dall'Agnola A.; Fullarton J.R.; Rodgers-Gray B.S.; Girardi E.; Mussa A.; Paniagua N.; Pieretto M.; Rodriguez-Fernandez R.; Manzoni P. | |
| Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome | 2017 | Mussa, Alessandro; Ferrero, Giovanni Battista | |
| Nomenclature and definition in asymmetric regional body overgrowth | 2017 | Kalish, Jennifer M; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare-Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez-Agosto, Julian A.; Mussa, Alessandro; Robinson, Peter; Russo, Silvia; Selicorni, Angelo; Hennekam, Raoul C. | |
| Constitutional bone impairment in Noonan syndrome | 2017 | Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients | 2017 | Montin, Davide; Licciardi, Francesco; Giorgio, Elisa; Ciolfi, Andrea; Pizzi, Simone; Mussa, Alessandro; Meazza, Raffaella; Tartaglia, Marco; Brusco, Alfredo; Pende, Daniela; Ferrero, Giovanni Battista | |
| Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome | 2017 | Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome | 2016 | Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista | |
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome | 2016 | Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista |
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