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.
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells
2020-01-01 Peired, Aj; Antonelli, G; Angelotti, Ml; Allinovi, M; Guzzi, F; Sisti, A; Semeraro, R; Conte, C; Mazzinghi, B; Nardi, S; Melica, Me; De Chiara, L; Lazzeri, E; Lasagni, L; Lottini, T; Landini, S; Giglio, S; Mari, A; Di Maida, F; Antonelli, A; Porpiglia, F; Schiavina, R; Ficarra, V; Facchiano, D; Gacci, M; Serni, S; Carini, M; Netto, Gj; Roperto, Rm; Magi, A; Christiansen, Cf; Rotondi, M; Liapis, H; Anders, Hj; Minervini, A; Raspollini, Mr; Romagnani, P.
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases
2014-01-01 Stagi, S; Manoni, C; Cirello, V; Covelli, D; Giglio, Sabrina Rita; Chiarelli, F; Seminara, Salvatore; De Martino, Maurizio
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
2011-01-01 Bedeschi, M. F.; V., Bianchi; B., Gentilin; L., Colombo; F., Natacci; Giglio, Sabrina Rita; E., Andreucci; L., Trespidi; B., Acaia; Furga, A. S.; F., Lalatta
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
2017-01-01 Saletti, Veronica; Esposito, Silvia; Maccaro, Angelo; Giglio, Sabrina; Valentini, Laura Grazia; Chiapparini, Luisa
Genetic counseling during COVID-19 pandemic: Tuscany experience
2020-01-01 Pagliazzi, A.; Mancano, G.; Forzano, G.; Di Giovanni, F.; Gori, G.; Traficante, G.; Iolascon, A.; Giglio, S.
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations
2011-01-01 Maffé, A; Toschi, B; Circo, G; Giachino, D; Giglio, Sabrina Rita; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, M.
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population
2022-01-01 Mocci, Stefano; Littera, Roberto; Tranquilli, Stefania; Provenzano, Aldesia; Mascia, Alessia; Cannas, Federica; Lai, Sara; Giuressi, Erika; Chessa, Luchino; Angioni, Goffredo; Campagna, Marcello; Firinu, Davide; Del Zompo, Maria; La Nasa, Giorgio; Perra, Andrea; Giglio, Sabrina
Beyond P Values: Novel Minimal Important Difference of the Comprehensive Complication Index (CCI®) that reflects a Meaningful Outcome for Patients Undergoing Major Abdominal Surgery
2025-01-01 Abbassi, F.; Pfister, M.; Braun, J.; Angenete, E.; Haglind, E.; Onerup, A.; Heijmans, M. H. M.; Slooter, G. D.; Molenaar, C. J. L.; Fiore, J. F.; Feldman, L. S.; Pecorelli, N.; Guarneri, G.; Falconi, M.; Drejian, S. K.; Fretland, A. A.; Edwin, B.; Ubels, S.; Hannink, G.; Puhan, M. A.; Clavien, P. -A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells | 1-gen-2020 | Peired, Aj; Antonelli, G; Angelotti, Ml; Allinovi, M; Guzzi, F; Sisti, A; Semeraro, R; Conte, C; Mazzinghi, B; Nardi, S; Melica, Me; De Chiara, L; Lazzeri, E; Lasagni, L; Lottini, T; Landini, S; Giglio, S; Mari, A; Di Maida, F; Antonelli, A; Porpiglia, F; Schiavina, R; Ficarra, V; Facchiano, D; Gacci, M; Serni, S; Carini, M; Netto, Gj; Roperto, Rm; Magi, A; Christiansen, Cf; Rotondi, M; Liapis, H; Anders, Hj; Minervini, A; Raspollini, Mr; Romagnani, P. | |
| Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases | 1-gen-2014 | Stagi, S; Manoni, C; Cirello, V; Covelli, D; Giglio, Sabrina Rita; Chiarelli, F; Seminara, Salvatore; De Martino, Maurizio | |
| Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report | 1-gen-2011 | Bedeschi, M. F.; V., Bianchi; B., Gentilin; L., Colombo; F., Natacci; Giglio, Sabrina Rita; E., Andreucci; L., Trespidi; B., Acaia; Furga, A. S.; F., Lalatta | |
| Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? | 1-gen-2017 | Saletti, Veronica; Esposito, Silvia; Maccaro, Angelo; Giglio, Sabrina; Valentini, Laura Grazia; Chiapparini, Luisa | |
| Genetic counseling during COVID-19 pandemic: Tuscany experience | 1-gen-2020 | Pagliazzi, A.; Mancano, G.; Forzano, G.; Di Giovanni, F.; Gori, G.; Traficante, G.; Iolascon, A.; Giglio, S. | |
| Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations | 1-gen-2011 | Maffé, A; Toschi, B; Circo, G; Giachino, D; Giglio, Sabrina Rita; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, M. | |
| A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population | 1-gen-2022 | Mocci, Stefano; Littera, Roberto; Tranquilli, Stefania; Provenzano, Aldesia; Mascia, Alessia; Cannas, Federica; Lai, Sara; Giuressi, Erika; Chessa, Luchino; Angioni, Goffredo; Campagna, Marcello; Firinu, Davide; Del Zompo, Maria; La Nasa, Giorgio; Perra, Andrea; Giglio, Sabrina | |
| Beyond P Values: Novel Minimal Important Difference of the Comprehensive Complication Index (CCI®) that reflects a Meaningful Outcome for Patients Undergoing Major Abdominal Surgery | 1-gen-2025 | Abbassi, F.; Pfister, M.; Braun, J.; Angenete, E.; Haglind, E.; Onerup, A.; Heijmans, M. H. M.; Slooter, G. D.; Molenaar, C. J. L.; Fiore, J. F.; Feldman, L. S.; Pecorelli, N.; Guarneri, G.; Falconi, M.; Drejian, S. K.; Fretland, A. A.; Edwin, B.; Ubels, S.; Hannink, G.; Puhan, M. A.; Clavien, P. -A. |
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 Rivista39434
Data di pubblicazione
- In corso di stampa10
- 2020 - 202611519
- 2010 - 201915948
- 2000 - 20097459
- 1990 - 19993485
- 1980 - 1989935
- 1970 - 197977
- 1959 - 19591
Editore
- Elsevier Inc.802
- Elsevier B.V.774
- John Wiley and Sons Inc527
- Springer Science and Business Med...522
- Oxford University Press484
- Lippincott Williams and Wilkins419
- Springer363
- MDPI347
- Elsevier Ltd334
- Springer Nature284
Rivista
- EUROPEAN UROLOGY529
- BLOOD372
- PLOS ONE312
- JOURNAL OF NEUROLOGY283
- EUROPEAN JOURNAL OF HEART FAILURE280
- NEUROLOGY268
- DIGESTIVE AND LIVER DISEASE245
- EUROPEAN HEART JOURNAL224
- MULTIPLE SCLEROSIS216
- SCIENTIFIC REPORTS212
Keyword
- Humans3553
- Male2080
- Female1864
- Middle Aged1472
- Aged1290
- Adult1100
- COVID-19629
- Retrospective Studies628
- Treatment Outcome603
- Prognosis482
Lingua
- eng28843
- ita1959
- fre64
- und55
- spa34
- ger25
- por12
- enm6
- rus6
- grc3
Accesso al fulltext
- no fulltext33468
- open3488
- reserved2369
- partially open100
- embargoed8
- mixed1