Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
2015-01-01 Caciotti, A; Tonin, Rodolfo; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, Ma; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Rocco, Md; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, Sd; Li, B; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, Sabrina Rita; Guerrini, Renzo; Parini, R; Morrone, Amelia
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis
2011-01-01 Pela, Ivana; Provenzano, Aldesia; Giglio, Sabrina Rita
Jumping translocations in acute lymphoblastic leukemia
1995-01-01 L., Seghezzi; P., Addis; Giglio, Sabrina Rita; R., Invernizzi; E., Maserati
Multicenter experience with implantable defibrillators subject to recall
2011-01-01 Perrotta, Laura; Pieragnoli, Paolo; Ricciardi, Giuseppe; Sacchi, Stefania; Mascia, Giuseppe; Padeletti, Margherita; Bongiorni, Mg; Curnis, A; Bellocci, F; Michelucci, Antonio; Porciani, Maria Cristina; Padeletti, Luigi
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
2021-01-01 Errichiello, Edoardo; Giorda, Roberto; Gambale, Antonella; Iolascon, Achille; Zuffardi, Orsetta; Giglio, Sabrina
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature
2022-01-01 Pisano, S.; Melis, M.; Figorilli, M.; Polizzi, L.; Rocchi, L.; Giglio, S.; Defazio, G.; Muroni, A.
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome
2011-01-01 Bonaglia, Mc.; Giorda, R; Beri, S; De Agostini, C; Novara, F; Fichera, M; Grillo, L; Galesi, O; Vetro, A; Ciccone, R; Maria Bonati, T; Giglio, S; Guerrini, R; Osimani, S; Marelli, S; Zucca, C; Grasso, R; Borgatti, R; Mani, E; Motta, C; Molteni, M; Romano, C; Greco, D; Reitano, S; Baroncini, A; Lapi, E; Cecconi, A; Arrigo, G; Patricelli, Mg; Pantaleoni, C; D'Arrigo, S; Daria, R; Sciacca, F; Dalla Bernardina, B; Zoccante, L; Darra, F; Termine, C; Maserati, E; Bigoni, S; Priolo, E; Bottani, A; Gimelli, S; Bena, F; Brusco, A; Di Gregorio, E; Bagnasco, I; Giussani, U; Nitsch, L; Politi, P; Martinez-Frias, Ml; Martínez-Fernández, Ml; Martínez Guardia, N; Bremer, A; Anderlid, B-M; Zuffardi, O
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
2020-01-01 Brizola, E.; Gnoli, M.; Tremosini, M.; Nucci, P.; Bargiacchi, S.; La Barbera, A.; Giglio, S.; Sangiorgi, L.
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
2021-01-01 Pagliazzi, A.; Oranges, T.; Traficante, G.; Trapani, C.; Facchini, F.; Martin, A.; Semeraro, A.; Perrone, A.; Filippeschi, C.; Giglio, S.
Macrophage CD31 Signaling in Dissecting Aortic Aneurysm
2018-01-01 Andreata, F.; Syvannarath, V.; Clement, M.; Delbosc, S.; Guedj, K.; Fornasa, G.; Khallou-Laschet, J.; Morvan, M.; Even, G.; Procopio, E.; Gaston, A. -T.; Le Borgne, M.; Deschamps, L.; Nicoletti, A.; Caligiuri, G.
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome
2017-01-01 Stagi, Stefano; Di Tommaso, Mariarosaria; Scalini, Perla; Sandini, Elena; Masoni, Fabrizio; Chiarelli, Francesco; Verrotti, Alberto; Giglio, Sabrina Rita; Romano, Silvia; De Martino, Maurizio
CENP-G in neocentromeres and inactive centromeres
2000-01-01 Gimelli, G; Zuffardi, O; Giglio, Sabrina Rita; Zeng, C. And He D.
Impact of haemodynamic SonR sensor on monitoring of left ventricular function in patients undergoing cardiac resynchronization therapy
2017-01-01 Sacchi, S; Pieragnoli, Paolo; Ricciardi, Giuseppe; Grifoni, Gino; Padeletti, Luigi
Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
2017-01-01 Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E.; Giglio, Sabrina R.; Sani, Dra Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella
Unresolved issues in left ventricular postischemic remodeling and progression to heart failure
2019-01-01 Gronda, E; Cattadori, G; Sacchi, S; Vanoli, E; Napoli, C.
Open-source, vendor-independent, automated multi-beat tissue Doppler echocardiography analysis
2017-01-01 Dhutia Niti, M; Zolgharni, Massoud; Mielewczik, Michael; Negoita, Madalina; Sacchi, S; Manoharan, Karikaran; Francis Darrel, P; Cole Graham, D.
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
2000-01-01 Giglio, Sabrina Rita; S. L., Graw; G., Gimelli; B., Pirola; P., Varone; L., Voullaire; F., Lerzo; E., Rossi; C., Dellavecchia; M. C., Bonaglia; M. C., Digilio; A., Giannotti; B., Marino; R., Carrozzo; J. R., Korenberg; C., Danesino; E., Sujansky; B., Dallapiccola; O., Zuffardi
GCMB, a second human homolog of the fly glide/gcm gene
1999-01-01 Kammerer, M; Pirola, B; Giglio, Sabrina Rita; Giangrande, A.
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity
2009-01-01 Andreucci, E; Bianchi, B; Carboni, I; Lavoratti, G; Mortilla, M; Fonda, C; Bigozzi, M; Genuardi, M; Giglio, Sabrina Rita; Pela, I.
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
2022-01-01 Schopflin, R.; Melo, U. S.; Moeinzadeh, H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M. -K.; Jungnitsch, J.; Comak, E.; Turkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations | 1-gen-2015 | Caciotti, A; Tonin, Rodolfo; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, Ma; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Rocco, Md; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, Sd; Li, B; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, Sabrina Rita; Guerrini, Renzo; Parini, R; Morrone, Amelia | |
| Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis | 1-gen-2011 | Pela, Ivana; Provenzano, Aldesia; Giglio, Sabrina Rita | |
| Jumping translocations in acute lymphoblastic leukemia | 1-gen-1995 | L., Seghezzi; P., Addis; Giglio, Sabrina Rita; R., Invernizzi; E., Maserati | |
| Multicenter experience with implantable defibrillators subject to recall | 1-gen-2011 | Perrotta, Laura; Pieragnoli, Paolo; Ricciardi, Giuseppe; Sacchi, Stefania; Mascia, Giuseppe; Padeletti, Margherita; Bongiorni, Mg; Curnis, A; Bellocci, F; Michelucci, Antonio; Porciani, Maria Cristina; Padeletti, Luigi | |
| RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism | 1-gen-2021 | Errichiello, Edoardo; Giorda, Roberto; Gambale, Antonella; Iolascon, Achille; Zuffardi, Orsetta; Giglio, Sabrina | |
| Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature | 1-gen-2022 | Pisano, S.; Melis, M.; Figorilli, M.; Polizzi, L.; Rocchi, L.; Giglio, S.; Defazio, G.; Muroni, A. | |
| Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome | 1-gen-2011 | Bonaglia, Mc.; Giorda, R; Beri, S; De Agostini, C; Novara, F; Fichera, M; Grillo, L; Galesi, O; Vetro, A; Ciccone, R; Maria Bonati, T; Giglio, S; Guerrini, R; Osimani, S; Marelli, S; Zucca, C; Grasso, R; Borgatti, R; Mani, E; Motta, C; Molteni, M; Romano, C; Greco, D; Reitano, S; Baroncini, A; Lapi, E; Cecconi, A; Arrigo, G; Patricelli, Mg; Pantaleoni, C; D'Arrigo, S; Daria, R; Sciacca, F; Dalla Bernardina, B; Zoccante, L; Darra, F; Termine, C; Maserati, E; Bigoni, S; Priolo, E; Bottani, A; Gimelli, S; Bena, F; Brusco, A; Di Gregorio, E; Bagnasco, I; Giussani, U; Nitsch, L; Politi, P; Martinez-Frias, Ml; Martínez-Fernández, Ml; Martínez Guardia, N; Bremer, A; Anderlid, B-M; Zuffardi, O | |
| Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation | 1-gen-2020 | Brizola, E.; Gnoli, M.; Tremosini, M.; Nucci, P.; Bargiacchi, S.; La Barbera, A.; Giglio, S.; Sangiorgi, L. | |
| PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib | 1-gen-2021 | Pagliazzi, A.; Oranges, T.; Traficante, G.; Trapani, C.; Facchini, F.; Martin, A.; Semeraro, A.; Perrone, A.; Filippeschi, C.; Giglio, S. | |
| Macrophage CD31 Signaling in Dissecting Aortic Aneurysm | 1-gen-2018 | Andreata, F.; Syvannarath, V.; Clement, M.; Delbosc, S.; Guedj, K.; Fornasa, G.; Khallou-Laschet, J.; Morvan, M.; Even, G.; Procopio, E.; Gaston, A. -T.; Le Borgne, M.; Deschamps, L.; Nicoletti, A.; Caligiuri, G. | |
| Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome | 1-gen-2017 | Stagi, Stefano; Di Tommaso, Mariarosaria; Scalini, Perla; Sandini, Elena; Masoni, Fabrizio; Chiarelli, Francesco; Verrotti, Alberto; Giglio, Sabrina Rita; Romano, Silvia; De Martino, Maurizio | |
| CENP-G in neocentromeres and inactive centromeres | 1-gen-2000 | Gimelli, G; Zuffardi, O; Giglio, Sabrina Rita; Zeng, C. And He D. | |
| Impact of haemodynamic SonR sensor on monitoring of left ventricular function in patients undergoing cardiac resynchronization therapy | 1-gen-2017 | Sacchi, S; Pieragnoli, Paolo; Ricciardi, Giuseppe; Grifoni, Gino; Padeletti, Luigi | |
| Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia | 1-gen-2017 | Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E.; Giglio, Sabrina R.; Sani, Dra Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella | |
| Unresolved issues in left ventricular postischemic remodeling and progression to heart failure | 1-gen-2019 | Gronda, E; Cattadori, G; Sacchi, S; Vanoli, E; Napoli, C. | |
| Open-source, vendor-independent, automated multi-beat tissue Doppler echocardiography analysis | 1-gen-2017 | Dhutia Niti, M; Zolgharni, Massoud; Mielewczik, Michael; Negoita, Madalina; Sacchi, S; Manoharan, Karikaran; Francis Darrel, P; Cole Graham, D. | |
| Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects | 1-gen-2000 | Giglio, Sabrina Rita; S. L., Graw; G., Gimelli; B., Pirola; P., Varone; L., Voullaire; F., Lerzo; E., Rossi; C., Dellavecchia; M. C., Bonaglia; M. C., Digilio; A., Giannotti; B., Marino; R., Carrozzo; J. R., Korenberg; C., Danesino; E., Sujansky; B., Dallapiccola; O., Zuffardi | |
| GCMB, a second human homolog of the fly glide/gcm gene | 1-gen-1999 | Kammerer, M; Pirola, B; Giglio, Sabrina Rita; Giangrande, A. | |
| Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity | 1-gen-2009 | Andreucci, E; Bianchi, B; Carboni, I; Lavoratti, G; Mortilla, M; Fonda, C; Bigozzi, M; Genuardi, M; Giglio, Sabrina Rita; Pela, I. | |
| Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes | 1-gen-2022 | Schopflin, R.; Melo, U. S.; Moeinzadeh, H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M. -K.; Jungnitsch, J.; Comak, E.; Turkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S. |
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