Small supernumerary marker chromosomes: A legacy of trisomy rescue?
2019-01-01 Kurtas, N. E.; Xumerle, L.; Leonardelli, L.; Delledonne, M.; Brusco, A.; Chrzanowska, K.; Schinzel, A.; Larizza, D.; Guerneri, S.; Natacci, F.; Bonaglia, M. C.; Reho, Paolo; Manolakos, E.; Mattina, T.; Soli, F.; Provenzano, A.; Al-Rikabi, A. H.; Errichiello, Elvira; Nazaryan-Petersen, L.; Giglio, S.; Tommerup, N.; Liehr, T.; Zuffardi, O.
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression
2021-01-01 Giordano, F.; Lenge, M.; Donati, P.; Mongardi, L.; Di Giacomo, G.; Mura, R.; Taverna, M.; Cini, C.; Peraio, S.; Poggi, G.; Tuccinardi, G.; Giglio, S.; Genitori, L.
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome
2020-01-01 Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012
2017-01-01 Delvecchio, Maurizio; Mozzillo, Enza; Salzano, Giuseppina; Iafusco, Dario; Frontino, Giulio; Patera, Patrizia I.; Rabbone, Ivana; Cherubini, Valentino; Grasso, Valeria; Tinto, Nadia; Giglio, Sabrina; Contreas, Giovanna; Di Paola, Rosa; Salina, Alessandro; Cauvin, Vittoria; Tumini, Stefano; D'Annunzio, Giuseppe; Iughetti, Lorenzo; Mantovani, Vilma; Maltoni, Giulio; Toni, Sonia; Marigliano, Marco; Barbetti, Fabrizio
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation
2019-01-01 Giunti, Laura; Da Ros, Martina; De Gregorio, Veronica; Magi, Alberto; Landini, Samuela; Mazzinghi, Benedetta; Buccoliero, Anna Maria; Genitori, Lorenzo; Giglio, Sabrina; Sardi, Iacopo
Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes
2018-01-01 El Khoury, P.; Roussel, R.; Fumeron, F.; Abou-Khalil, Y.; Velho, G.; Mohammedi, K.; Jacob, M. -P.; Steg, P. G.; Potier, L.; Ghaleb, Y.; Elbitar, S.; Ragot, S.; Andreata, F.; Caligiuri, G.; Hadjadj, S.; Boileau, C.; Marre, M.; Abifadel, M.; Varret, M.; Hansel, B.
Reply-MSK and dRTA: a puzzling association
2011-01-01 Giglio, Sabrina Rita; Pela, Ivana
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
2022-01-01 Knoers, Nine; Antignac, Corinne; Bergmann, Carsten; Dahan, Karin; Giglio, Sabrina; Heidet, Laurence; Lipska-Ziętkiewicz, Beata S; Noris, Marina; Remuzzi, Giuseppe; Vargas-Poussou, Rosa; Schaefer, Franz
Bedside intra-aortic balloon pump insertion in cardiac intensive care unit: A single-center experience
2022-01-01 31., Baldetti L; Beneduce, A; Boccellino, A; Pagnesi, M; Barone, G; Gallone, G; Napolano, A; Gramegna, M; Calvo, F; Pazzanese, V; Sacchi, S; Cappelletti, Am.
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
1996-01-01 Banfi, S; Borsani, G; Rossi, E; Bernard, L; Guffanti, A; Rubboli, F; Marchitiello, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A.
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12
2000-01-01 Bardoni, B; Giglio, Sabrina Rita; Schenck, A; Rocchi, M; Mandel, J. L.
Endothelial chimerism and vascular sequestration protect pancreatic islet grafts from antibody-mediated rejection
2018-01-01 Chen, C. -C.; Pouliquen, E.; Broisat, A.; Andreata, F.; Racape, M.; Bruneval, P.; Kessler, L.; Ahmadi, M.; Bacot, S.; Saison-Delaplace, C.; Marcaud, M.; Van Huyen, J. -P. D.; Loupy, A.; Villard, J.; Demuylder-Mischler, S.; Berney, T.; Morelon, E.; Tsai, M. -K.; Kolopp-Sarda, M. -N.; Koenig, A.; Mathias, V.; Ducreux, S.; Ghezzi, C.; Dubois, V.; Nicoletti, A.; Defrance, T.; Thaunat, O.
Diagnostic implications of genetic copy number variation in epilepsy plus
2019-01-01 Coppola, A1; 2, 3; Cellini, E4; Stamberger, H5; 6, 7; Saarentaus, E8; 9, 10; 11, ; Cetica, V4; Lal, D10; 11, 12; Djémié, T5; 6, ; Bartnik-Glaska, M13; Ceulemans, B14; Cross, Jh15; 16, 17; Deconinck, T5; 6, ; De Masi, S7; Dorn, T18; Guerrini, R; Hoffman-Zacharska, D14; Kooy, F19; Lagae, L20; Lench, N21; Lemke, Jr22; Lucenteforte, E23; 24, ; Madia, F25; Mefford, Hc26; Morrogh, D21; Nuernberg, P27; Palotie, A11; 13, ; Schoonjans, As15; Striano, P28; Szczepanik, E29; Tostevin, A1; 2, ; Vermeesch, Jr30; Van Esch, H30; Van Paesschen, W31; Waters, Jj21; Weckhuysen, S5; 6, 12; Zara, F25; De Jonghe, P5; 6, 12; Sisodiya, Sm1; 2, ; Marini, C; EuroEPINOMICS-RES, Consortium; Epicnv Consortium., Lehesjioki Ae; Craiu, D; Talvik, T; Caglayan, H; Serratosa, J; Sterbova, K; Møller, Rs; Hjalgrim, H; Lerche, H; Weber, Y; Helbig, I; Von Spiczak, S; Barba, C; Bogaerts, A; Boni, A; Galizia, Ec; Chiari, S; Di Gacomo, G; Ferrari, A; Garducci, S; Giglio, S; Holmgren, P; Leu, C; Melani, F; Novara, F; Pantaleo, M; Peeters, E; Pisano, T; Rosati, A; Sander, J; Schoeler, N; Stankiewicz, P; Striano, S; Suls, A; Traverso, M; Vandeweyer, G; Van Dijck, A; Zuffardi, O.
Use of extracorporeal membrane oxygenation in high-risk acute pulmonary embolism: A systematic review and meta-analysis
2021-01-01 Baldetti, L; Beneduce, A; Cianfanelli, L; Falasconi, G; Pannone, L; Moroni, F; Venuti, A; Sacchi, S; Gramegna, M; Pazzanese, V; Calvo, F; Gallone, G; Pagnesi, M; Cappelletti, Am.
Bone mineral status and metabolism in patients with Williams-Beuren syndrome
2016-01-01 Stagi, Stefano; Manoni, Maria Cristina; Scalini, Perla; Chiarelli, F; Verrotti, A; Cecchi, C; Lapi, E; Giglio, Sabrina Rita; Romano, S; De Martino, Maurizio
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes
2009-01-01 I., Carboni; E., Andreucci; M. R., Caruso; R., Ciccone; O., Zuffardi; M., Genuardi; I., Pela; Giglio, Sabrina Rita
Metabolomic does not predict response to cardiac resynchronization therapy in patients with heart failure
2014-01-01 Padeletti, Luigi; Modesti, Pietro Amedeo; Cartei, Stella; Checchi, Luca; Ricciardi, Giuseppe; Pieragnoli, Paolo; Sacchi, Stefania; Padeletti, Margherita; Alterini, Brunetto; Pantaleo, Pietro; Hu, Xiaoyu; Tenori, Leonardo; Luchinat, Claudio
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts
2019-01-01 Vergine, Gianluca; Ravaioli, Elisa; Palazzo, Viviana; Gambaro, Giovanni; Giglio, Sabrina
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
2007-01-01 De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, Sabrina Rita; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O.
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis
2014-01-01 Stagi, Stefano; Elisabetta, Lapi; Salvatore, Seminara; Silvia, Guarducci; Marilena, Pantaleo; Giglio, Sabrina Rita; Francesco, Chiarelli; Maurizio De, Martino
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Small supernumerary marker chromosomes: A legacy of trisomy rescue? | 1-gen-2019 | Kurtas, N. E.; Xumerle, L.; Leonardelli, L.; Delledonne, M.; Brusco, A.; Chrzanowska, K.; Schinzel, A.; Larizza, D.; Guerneri, S.; Natacci, F.; Bonaglia, M. C.; Reho, Paolo; Manolakos, E.; Mattina, T.; Soli, F.; Provenzano, A.; Al-Rikabi, A. H.; Errichiello, Elvira; Nazaryan-Petersen, L.; Giglio, S.; Tommerup, N.; Liehr, T.; Zuffardi, O. | |
| Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression | 1-gen-2021 | Giordano, F.; Lenge, M.; Donati, P.; Mongardi, L.; Di Giacomo, G.; Mura, R.; Taverna, M.; Cini, C.; Peraio, S.; Poggi, G.; Tuccinardi, G.; Giglio, S.; Genitori, L. | |
| Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome | 1-gen-2020 | Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina | |
| Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 | 1-gen-2017 | Delvecchio, Maurizio; Mozzillo, Enza; Salzano, Giuseppina; Iafusco, Dario; Frontino, Giulio; Patera, Patrizia I.; Rabbone, Ivana; Cherubini, Valentino; Grasso, Valeria; Tinto, Nadia; Giglio, Sabrina; Contreas, Giovanna; Di Paola, Rosa; Salina, Alessandro; Cauvin, Vittoria; Tumini, Stefano; D'Annunzio, Giuseppe; Iughetti, Lorenzo; Mantovani, Vilma; Maltoni, Giulio; Toni, Sonia; Marigliano, Marco; Barbetti, Fabrizio | |
| A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation | 1-gen-2019 | Giunti, Laura; Da Ros, Martina; De Gregorio, Veronica; Magi, Alberto; Landini, Samuela; Mazzinghi, Benedetta; Buccoliero, Anna Maria; Genitori, Lorenzo; Giglio, Sabrina; Sardi, Iacopo | |
| Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes | 1-gen-2018 | El Khoury, P.; Roussel, R.; Fumeron, F.; Abou-Khalil, Y.; Velho, G.; Mohammedi, K.; Jacob, M. -P.; Steg, P. G.; Potier, L.; Ghaleb, Y.; Elbitar, S.; Ragot, S.; Andreata, F.; Caligiuri, G.; Hadjadj, S.; Boileau, C.; Marre, M.; Abifadel, M.; Varret, M.; Hansel, B. | |
| Reply-MSK and dRTA: a puzzling association | 1-gen-2011 | Giglio, Sabrina Rita; Pela, Ivana | |
| Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice | 1-gen-2022 | Knoers, Nine; Antignac, Corinne; Bergmann, Carsten; Dahan, Karin; Giglio, Sabrina; Heidet, Laurence; Lipska-Ziętkiewicz, Beata S; Noris, Marina; Remuzzi, Giuseppe; Vargas-Poussou, Rosa; Schaefer, Franz | |
| Bedside intra-aortic balloon pump insertion in cardiac intensive care unit: A single-center experience | 1-gen-2022 | 31., Baldetti L; Beneduce, A; Boccellino, A; Pagnesi, M; Barone, G; Gallone, G; Napolano, A; Gramegna, M; Calvo, F; Pazzanese, V; Sacchi, S; Cappelletti, Am. | |
| Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching | 1-gen-1996 | Banfi, S; Borsani, G; Rossi, E; Bernard, L; Guffanti, A; Rubboli, F; Marchitiello, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A. | |
| Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 | 1-gen-2000 | Bardoni, B; Giglio, Sabrina Rita; Schenck, A; Rocchi, M; Mandel, J. L. | |
| Endothelial chimerism and vascular sequestration protect pancreatic islet grafts from antibody-mediated rejection | 1-gen-2018 | Chen, C. -C.; Pouliquen, E.; Broisat, A.; Andreata, F.; Racape, M.; Bruneval, P.; Kessler, L.; Ahmadi, M.; Bacot, S.; Saison-Delaplace, C.; Marcaud, M.; Van Huyen, J. -P. D.; Loupy, A.; Villard, J.; Demuylder-Mischler, S.; Berney, T.; Morelon, E.; Tsai, M. -K.; Kolopp-Sarda, M. -N.; Koenig, A.; Mathias, V.; Ducreux, S.; Ghezzi, C.; Dubois, V.; Nicoletti, A.; Defrance, T.; Thaunat, O. | |
| Diagnostic implications of genetic copy number variation in epilepsy plus | 1-gen-2019 | Coppola, A1; 2, 3; Cellini, E4; Stamberger, H5; 6, 7; Saarentaus, E8; 9, 10; 11, ; Cetica, V4; Lal, D10; 11, 12; Djémié, T5; 6, ; Bartnik-Glaska, M13; Ceulemans, B14; Cross, Jh15; 16, 17; Deconinck, T5; 6, ; De Masi, S7; Dorn, T18; Guerrini, R; Hoffman-Zacharska, D14; Kooy, F19; Lagae, L20; Lench, N21; Lemke, Jr22; Lucenteforte, E23; 24, ; Madia, F25; Mefford, Hc26; Morrogh, D21; Nuernberg, P27; Palotie, A11; 13, ; Schoonjans, As15; Striano, P28; Szczepanik, E29; Tostevin, A1; 2, ; Vermeesch, Jr30; Van Esch, H30; Van Paesschen, W31; Waters, Jj21; Weckhuysen, S5; 6, 12; Zara, F25; De Jonghe, P5; 6, 12; Sisodiya, Sm1; 2, ; Marini, C; EuroEPINOMICS-RES, Consortium; Epicnv Consortium., Lehesjioki Ae; Craiu, D; Talvik, T; Caglayan, H; Serratosa, J; Sterbova, K; Møller, Rs; Hjalgrim, H; Lerche, H; Weber, Y; Helbig, I; Von Spiczak, S; Barba, C; Bogaerts, A; Boni, A; Galizia, Ec; Chiari, S; Di Gacomo, G; Ferrari, A; Garducci, S; Giglio, S; Holmgren, P; Leu, C; Melani, F; Novara, F; Pantaleo, M; Peeters, E; Pisano, T; Rosati, A; Sander, J; Schoeler, N; Stankiewicz, P; Striano, S; Suls, A; Traverso, M; Vandeweyer, G; Van Dijck, A; Zuffardi, O. | |
| Use of extracorporeal membrane oxygenation in high-risk acute pulmonary embolism: A systematic review and meta-analysis | 1-gen-2021 | Baldetti, L; Beneduce, A; Cianfanelli, L; Falasconi, G; Pannone, L; Moroni, F; Venuti, A; Sacchi, S; Gramegna, M; Pazzanese, V; Calvo, F; Gallone, G; Pagnesi, M; Cappelletti, Am. | |
| Bone mineral status and metabolism in patients with Williams-Beuren syndrome | 1-gen-2016 | Stagi, Stefano; Manoni, Maria Cristina; Scalini, Perla; Chiarelli, F; Verrotti, A; Cecchi, C; Lapi, E; Giglio, Sabrina Rita; Romano, S; De Martino, Maurizio | |
| Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes | 1-gen-2009 | I., Carboni; E., Andreucci; M. R., Caruso; R., Ciccone; O., Zuffardi; M., Genuardi; I., Pela; Giglio, Sabrina Rita | |
| Metabolomic does not predict response to cardiac resynchronization therapy in patients with heart failure | 1-gen-2014 | Padeletti, Luigi; Modesti, Pietro Amedeo; Cartei, Stella; Checchi, Luca; Ricciardi, Giuseppe; Pieragnoli, Paolo; Sacchi, Stefania; Padeletti, Margherita; Alterini, Brunetto; Pantaleo, Pietro; Hu, Xiaoyu; Tenori, Leonardo; Luchinat, Claudio | |
| Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts | 1-gen-2019 | Vergine, Gianluca; Ravaioli, Elisa; Palazzo, Viviana; Gambaro, Giovanni; Giglio, Sabrina | |
| Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients | 1-gen-2007 | De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, Sabrina Rita; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O. | |
| Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis | 1-gen-2014 | Stagi, Stefano; Elisabetta, Lapi; Salvatore, Seminara; Silvia, Guarducci; Marilena, Pantaleo; Giglio, Sabrina Rita; Francesco, Chiarelli; Maurizio De, Martino |
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