Prognostic value of right atrial pressure-corrected cardiac power index in cardiogenic shock
2022-01-01 Baldetti, L; Pagnesi, M; Gallone, G; Barone, G; Fierro, N; Calvo, F; Gramegna, M; Pazzanese, V; Venuti, A; Sacchi, S; De Ferrari, Gm; Burkhoff, D; Lim, Hs; Cappelletti, Am.
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay
2017-01-01 Polimanti, Renato; Squitti, Rosanna; Pantaleo, Marilena; Giglio, Sabrina Rita; Zito, Giancarlo
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication
2015-01-01 Ottaviani, V; Bartocci, A; Pantaleo, M; Giglio, Sabrina Rita; Cecconi, Massimiliano; Verrotti, A; Merla, G; Stangoni, G; Prontera, P.
Hemodynamic sensor in cardiac implantable electric devices: the endocardial accelaration technology
2013-01-01 Sacchi, Stefania; Contardi, D; Pieragnoli, Paolo; Ricciardi, Giuseppe; Giomi, Andrea; Padeletti, Luigi
QRS duration in left bundle branch block does not affect left ventricular twisting in chronic systolic heart failure
2015-01-01 Attanà, Paola; Paoletti Perini, Alessandro; Votta Carmine, Domenico; Cappelli, Francesco; Pieragnoli, Paolo; Ricciardi, Giuseppe; Nesti, Martina; Giomi, Andrea; Sacchi, S; Chiostri, Marco; Padeletti, Luigi
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
2018-01-01 Sticchi, Elena; De Cario, Rosina; Magi, Alberto; Giglio, Sabrina; Provenzano, Aldesia; Nistri, Stefano; Pepe, Guglielmina; Giusti, Betti
Haploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles
1998-01-01 Pirola, B; Bortotto, L; Giglio, Sabrina Rita; Piovan, E; Janes, A; Guerrini, Renzo; Zuffardi, O.
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos
2020-01-01 Bacci, Gm; Bargiacchi, S; Fortunato, P; Pisaneschi, E; Peluso, F; Marziali, E; Magli, A; Giglio, S; Caputo, R.
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation
2003-01-01 D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, Sabrina Rita
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia
2015-01-01 Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements
2001-01-01 Giglio, Sabrina Rita; Broman, Kw; Matsumoto, N; Calvari, V; Gimelli, G; Neumann, T; Ohashi, H; Voullaire, L; Larizza, D; Giorda, R; Weber, Jl; Ledbetter, Dh; Zuffardi, O.
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
2015-01-01 M., Callea; C., Willoughby; P., Nieminen; M., Di Stazio; E., Bellacchio; Giglio, Sabrina Rita; I., Sani; A., Vinciguerra; M., Maglione; G., Tadini; G., Clarich
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis
2016-01-01 Romagnani, Paola; Giglio, Sabrina Rita; Angelotti, Maria Lucia; Provenzano, Aldesia; Becherucci, Francesca; Mazzinghi, Benedetta; Müller, Susanna; Amann, Kerstin; Weidenbusch, Marc; Romoli, Simone; Lazzeri, Elena; Anders, Hans Joachim
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation
2003-01-01 D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, Sabrina Rita
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
2017-01-01 Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; Van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A; Delahaye, Andrã©e; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
2015-01-01 De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Béna, Frédérique; Bockaert, Nele; Bongers, Ernie M.; De Ravel, Thomy; Devriendt, Koenraad; Giglio, Sabrina; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J. M.; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tümer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E.; Kleefstra, Tjitske; Menten, Björn
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient
2017-01-01 Guidi, Milena; Giunti, Laura; Lucchesi, Maurizio; Scoccianti, Silvia; Giglio, Sabrina Rita; Favre, Claudio; Oliveri, Giuseppe; Sardi, Iacopo
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins
2017-01-01 Murro, V.; Caputo, R.; Bacci, G. M.; Sodi, A.; Mucciolo, D. P.; Bargiacchi, S.; Giglio, S. R.; Virgili, Gianni; Rizzo, Stanislao
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency
2013-01-01 Chianese, Chiara; Lo Giacco, D; Tüttelmann, F; Ferlin, A; Ntostis, P; Vinci, Serena; Balercia, G; Ars, E; Ruiz Castañé, E; Giglio, Sabrina Rita; Forti, Gianni; Kliesch, S; Krausz, Csilla Gabriella
Inverted duplications: how many of them are mosaic?
2004-01-01 Pramparo, T; Giglio, Sabrina Rita; Gregato, G; De Gregori, M; Grazia Patricelli, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Prognostic value of right atrial pressure-corrected cardiac power index in cardiogenic shock | 1-gen-2022 | Baldetti, L; Pagnesi, M; Gallone, G; Barone, G; Fierro, N; Calvo, F; Gramegna, M; Pazzanese, V; Venuti, A; Sacchi, S; De Ferrari, Gm; Burkhoff, D; Lim, Hs; Cappelletti, Am. | |
| Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay | 1-gen-2017 | Polimanti, Renato; Squitti, Rosanna; Pantaleo, Marilena; Giglio, Sabrina Rita; Zito, Giancarlo | |
| Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication | 1-gen-2015 | Ottaviani, V; Bartocci, A; Pantaleo, M; Giglio, Sabrina Rita; Cecconi, Massimiliano; Verrotti, A; Merla, G; Stangoni, G; Prontera, P. | |
| Hemodynamic sensor in cardiac implantable electric devices: the endocardial accelaration technology | 1-gen-2013 | Sacchi, Stefania; Contardi, D; Pieragnoli, Paolo; Ricciardi, Giuseppe; Giomi, Andrea; Padeletti, Luigi | |
| QRS duration in left bundle branch block does not affect left ventricular twisting in chronic systolic heart failure | 1-gen-2015 | Attanà, Paola; Paoletti Perini, Alessandro; Votta Carmine, Domenico; Cappelli, Francesco; Pieragnoli, Paolo; Ricciardi, Giuseppe; Nesti, Martina; Giomi, Andrea; Sacchi, S; Chiostri, Marco; Padeletti, Luigi | |
| Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype | 1-gen-2018 | Sticchi, Elena; De Cario, Rosina; Magi, Alberto; Giglio, Sabrina; Provenzano, Aldesia; Nistri, Stefano; Pepe, Guglielmina; Giusti, Betti | |
| Haploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles | 1-gen-1998 | Pirola, B; Bortotto, L; Giglio, Sabrina Rita; Piovan, E; Janes, A; Guerrini, Renzo; Zuffardi, O. | |
| Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos | 1-gen-2020 | Bacci, Gm; Bargiacchi, S; Fortunato, P; Pisaneschi, E; Peluso, F; Marziali, E; Magli, A; Giglio, S; Caputo, R. | |
| Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation | 1-gen-2003 | D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, Sabrina Rita | |
| Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia | 1-gen-2015 | Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C | |
| Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements | 1-gen-2001 | Giglio, Sabrina Rita; Broman, Kw; Matsumoto, N; Calvari, V; Gimelli, G; Neumann, T; Ohashi, H; Voullaire, L; Larizza, D; Giorda, R; Weber, Jl; Ledbetter, Dh; Zuffardi, O. | |
| Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia | 1-gen-2015 | M., Callea; C., Willoughby; P., Nieminen; M., Di Stazio; E., Bellacchio; Giglio, Sabrina Rita; I., Sani; A., Vinciguerra; M., Maglione; G., Tadini; G., Clarich | |
| Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis | 1-gen-2016 | Romagnani, Paola; Giglio, Sabrina Rita; Angelotti, Maria Lucia; Provenzano, Aldesia; Becherucci, Francesca; Mazzinghi, Benedetta; Müller, Susanna; Amann, Kerstin; Weidenbusch, Marc; Romoli, Simone; Lazzeri, Elena; Anders, Hans Joachim | |
| Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation | 1-gen-2003 | D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, Sabrina Rita | |
| Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases | 1-gen-2017 | Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; Van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A; Delahaye, Andrã©e; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta | |
| Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity | 1-gen-2015 | De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Béna, Frédérique; Bockaert, Nele; Bongers, Ernie M.; De Ravel, Thomy; Devriendt, Koenraad; Giglio, Sabrina; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J. M.; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tümer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E.; Kleefstra, Tjitske; Menten, Björn | |
| Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient | 1-gen-2017 | Guidi, Milena; Giunti, Laura; Lucchesi, Maurizio; Scoccianti, Silvia; Giglio, Sabrina Rita; Favre, Claudio; Oliveri, Giuseppe; Sardi, Iacopo | |
| Case report of an atypical early onset X-linked retinoschisis in monozygotic twins | 1-gen-2017 | Murro, V.; Caputo, R.; Bacci, G. M.; Sodi, A.; Mucciolo, D. P.; Bargiacchi, S.; Giglio, S. R.; Virgili, Gianni; Rizzo, Stanislao | |
| Y-chromosome microdeletions are not associated with SHOX haploinsufficiency | 1-gen-2013 | Chianese, Chiara; Lo Giacco, D; Tüttelmann, F; Ferlin, A; Ntostis, P; Vinci, Serena; Balercia, G; Ars, E; Ruiz Castañé, E; Giglio, Sabrina Rita; Forti, Gianni; Kliesch, S; Krausz, Csilla Gabriella | |
| Inverted duplications: how many of them are mosaic? | 1-gen-2004 | Pramparo, T; Giglio, Sabrina Rita; Gregato, G; De Gregori, M; Grazia Patricelli, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O. |
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
Scopri
Tipologia
- 1 Contributo su Rivista38822
Data di pubblicazione
- In corso di stampa10
- 2020 - 202711004
- 2010 - 201915891
- 2000 - 20097437
- 1990 - 19993473
- 1980 - 1989929
- 1970 - 197977
- 1959 - 19591
Editore
- Elsevier Inc.769
- Elsevier B.V.745
- John Wiley and Sons Inc491
- Springer Science and Business Med...487
- Oxford University Press450
- Lippincott Williams and Wilkins403
- MDPI348
- Springer348
- Elsevier Ltd318
- Springer Nature254
Rivista
- EUROPEAN UROLOGY527
- BLOOD372
- PLOS ONE309
- JOURNAL OF NEUROLOGY273
- EUROPEAN JOURNAL OF HEART FAILURE272
- NEUROLOGY267
- DIGESTIVE AND LIVER DISEASE246
- EUROPEAN HEART JOURNAL219
- MULTIPLE SCLEROSIS212
- SCIENTIFIC REPORTS209
Keyword
- Humans3554
- Male2081
- Female1864
- Middle Aged1472
- Aged1290
- Adult1100
- Retrospective Studies628
- COVID-19622
- Treatment Outcome603
- Prognosis474
Lingua
- eng28240
- ita1928
- fre64
- und55
- spa34
- ger25
- por12
- rus6
- grc3
- pol3
Accesso al fulltext
- no fulltext33640
- open3002
- reserved2086
- partially open82
- embargoed11
- mixed1