Cleaved CD31 as a target for in vivo molecular imaging of inflammation
2019-01-01 Vigne, J.; Bay, S.; Aid-Launais, R.; Pariscoat, G.; Rucher, G.; Senemaud, J.; Truffier, A.; Anizan, N.; Even, G.; Ganneau, C.; Andreata, F.; Le Borgne, M.; Nicoletti, A.; Le Guludec, D.; Caligiuri, G.; Rouzet, F.
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
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
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.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
2017-01-01 Palazzo, Viviana; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, Giulia; Mazzinghi, Benedetta; Orlandini, Valerio; Giunti, Laura; Roperto, Rosa Maria; Pantaleo, Marilena; Artuso, Rosangela; Andreucci, Elena; Bargiacchi, Sara; Traficante, Giovanna; Stagi, Stefano; Murer, Luisa; Benetti, Elisa; Emma, Francesco; Giordano, Mario; Rivieri, Francesca; Colussi, Giacomo; Penco, Silvana; Manfredini, Emanuela; Caruso, Maria Rosa; Garavelli, Livia; Andrulli, Simeone; Vergine, Gianluca; Miglietti, Nunzia; Mancini, Elena; Malaventura, Cristina; Percesepe, Antonio; Grosso, Enrico; Materassi, Marco; Romagnani, Paola; Giglio, Sabrina Rita
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Cleaved CD31 as a target for in vivo molecular imaging of inflammation | 1-gen-2019 | Vigne, J.; Bay, S.; Aid-Launais, R.; Pariscoat, G.; Rucher, G.; Senemaud, J.; Truffier, A.; Anizan, N.; Even, G.; Ganneau, C.; Andreata, F.; Le Borgne, M.; Nicoletti, A.; Le Guludec, D.; Caligiuri, G.; Rouzet, F. | |
| 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 | |
| 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 | |
| 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. | |
| The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis | 1-gen-2017 | Palazzo, Viviana; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, Giulia; Mazzinghi, Benedetta; Orlandini, Valerio; Giunti, Laura; Roperto, Rosa Maria; Pantaleo, Marilena; Artuso, Rosangela; Andreucci, Elena; Bargiacchi, Sara; Traficante, Giovanna; Stagi, Stefano; Murer, Luisa; Benetti, Elisa; Emma, Francesco; Giordano, Mario; Rivieri, Francesca; Colussi, Giacomo; Penco, Silvana; Manfredini, Emanuela; Caruso, Maria Rosa; Garavelli, Livia; Andrulli, Simeone; Vergine, Gianluca; Miglietti, Nunzia; Mancini, Elena; Malaventura, Cristina; Percesepe, Antonio; Grosso, Enrico; Materassi, Marco; Romagnani, Paola; Giglio, Sabrina Rita |
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