GIMELLI, STEFANIA
GIMELLI, STEFANIA
DIPARTIMENTO DI PATOLOGIA UMANA ED EREDITARIA (attivo dal 01/01/1900 al 28/02/2011)
2q24-q31 deletion: report of a case and review of the literature.
2007-01-01 Zuffardi, Orsetta; Gimelli, Stefania; Pescucci, C; Caselli, R; Grosso, S; Mencarelli, Ma; Mari, F; Farnetani, Ma; Piccini, B; Artuso, R; Bruttini, M; Priolo, M; Balestri, P; Renieri, A.
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
2006-01-01 Zuffardi, Orsetta; Gimelli, Stefania; Gimelli, G; Giorda, R; Beri, S; Gimelli, S.
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
2007-01-01 Gimelli, G.; Giorda, R.; Beri, S.; Gimelli, Stefania; Zuffardi, Orsetta
Characterization of a recurrent 15q24 microdeletion syndrome.
2007-01-01 Sharp, A. J.; Selzer, R. R.; Veltman, J. A.; Gimelli, Stefania; Gimelli, G.; Striano, P.; Coppola, A.; Regan, R.; Price, S. M.; Knoers, N. V.; Eis, P. S.; Brunner, H. G.; Hennekam, R. C.; Knight, S. J.; De Vries, B. B.; Zuffardi, Orsetta
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomics hybridization.
2011-01-01 Striano, P; Coppola, A; Paravidino, R; Malacarne, M; Gimelli, Stefania; Robbiano, A; Traverso, M; Pezzella, M; Belcastro, V; Bianchi, A; Elia, M; Falace, A; Gazzero, E; Ferlazzo, E; Freri, E; Galasso, R; Gobbi, G; Molinatto, C; Cavani, S; Zuffardi, O; Striano, S; Ferrero, Gb; Silengo, M; Cavalieri, Ml; Benelli, M; Magi, A; Piccione, M; Dagna bricarelli, F; Coviello, Da; Fichera, M; Minetti, C; Zara, F.
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
2007-01-01 Gimelli, G.; Gimelli, Stefania; Dimasi, N.; Bocciardi, R.; DI BATTISTA, E.; Pramparo, T.; Zuffardi, Orsetta
Mutationss in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
2010-01-01 Gimelli, Stefania; Caridi, G; Beri, S; Mccracken, K; Bocciardi, R; Zordan, P; Dagnino, M; Fiorio, P; Murer, L; Benetti, E; Zuffardi, Orsetta; Giorda, R; Wells, Jm; Gimelli, G; Ghiggeri, Gm
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
2007-01-01 Bocciardi, R.; Giorda, R.; Buttgereit, J.; Gimelli, Stefania; Divizia, M. T.; Beri, S.; Garofalo, S.; Tavella, S.; Lerone, M.; Zuffardi, Orsetta; Bader, M.; Ravazzolo, R.; Gimelli, G.
SPAN-CGH (Simple Plot Analysis & Normalization for array-CGH): un software user-friendly per la visualizzazione e l'analisi statistica dei dati di array-CGH
2005-01-01 E., Ferri; Pramparo, Tiziano; Gimelli, Stefania; Magni, Paolo; Bellazzi, Riccardo
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q131.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
2007-01-01 Panza, E.; Gimelli, G.; Passalacqua, M.; Cohen, A.; Gimelli, Stefania; Giglio, S.; Ghezzi, C.; Sparatore, B.; Heye, B.; Zuffardi, Orsetta; Rugarli, E.; Meitinger, T.; Romeo, G.; Ravazzolo, R.; Seri, M.
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24;q11.21) in a young girl with dysgerminoma.
2009-01-01 Gimelli, Stefania; Beri, S; Drabkin, Ha; Gambini, C; Gregorio, A; Fiorio, P; Zuffardi, Orsetta; Gemmill, Rm; Giorda, R; Gimelli, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2q24-q31 deletion: report of a case and review of the literature. | 1-gen-2007 | Zuffardi, Orsetta; Gimelli, Stefania; Pescucci, C; Caselli, R; Grosso, S; Mencarelli, Ma; Mari, F; Farnetani, Ma; Piccini, B; Artuso, R; Bruttini, M; Priolo, M; Balestri, P; Renieri, A. | |
| A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. | 1-gen-2006 | Zuffardi, Orsetta; Gimelli, Stefania; Gimelli, G; Giorda, R; Beri, S; Gimelli, S. | |
| A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. | 1-gen-2007 | Gimelli, G.; Giorda, R.; Beri, S.; Gimelli, Stefania; Zuffardi, Orsetta | |
| Characterization of a recurrent 15q24 microdeletion syndrome. | 1-gen-2007 | Sharp, A. J.; Selzer, R. R.; Veltman, J. A.; Gimelli, Stefania; Gimelli, G.; Striano, P.; Coppola, A.; Regan, R.; Price, S. M.; Knoers, N. V.; Eis, P. S.; Brunner, H. G.; Hennekam, R. C.; Knight, S. J.; De Vries, B. B.; Zuffardi, Orsetta | |
| Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomics hybridization. | 1-gen-2011 | Striano, P; Coppola, A; Paravidino, R; Malacarne, M; Gimelli, Stefania; Robbiano, A; Traverso, M; Pezzella, M; Belcastro, V; Bianchi, A; Elia, M; Falace, A; Gazzero, E; Ferlazzo, E; Freri, E; Galasso, R; Gobbi, G; Molinatto, C; Cavani, S; Zuffardi, O; Striano, S; Ferrero, Gb; Silengo, M; Cavalieri, Ml; Benelli, M; Magi, A; Piccione, M; Dagna bricarelli, F; Coviello, Da; Fichera, M; Minetti, C; Zara, F. | |
| Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. | 1-gen-2007 | Gimelli, G.; Gimelli, Stefania; Dimasi, N.; Bocciardi, R.; DI BATTISTA, E.; Pramparo, T.; Zuffardi, Orsetta | |
| Mutationss in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. | 1-gen-2010 | Gimelli, Stefania; Caridi, G; Beri, S; Mccracken, K; Bocciardi, R; Zordan, P; Dagnino, M; Fiorio, P; Murer, L; Benetti, E; Zuffardi, Orsetta; Giorda, R; Wells, Jm; Gimelli, G; Ghiggeri, Gm | |
| Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. | 1-gen-2007 | Bocciardi, R.; Giorda, R.; Buttgereit, J.; Gimelli, Stefania; Divizia, M. T.; Beri, S.; Garofalo, S.; Tavella, S.; Lerone, M.; Zuffardi, Orsetta; Bader, M.; Ravazzolo, R.; Gimelli, G. | |
| SPAN-CGH (Simple Plot Analysis & Normalization for array-CGH): un software user-friendly per la visualizzazione e l'analisi statistica dei dati di array-CGH | 1-gen-2005 | E., Ferri; Pramparo, Tiziano; Gimelli, Stefania; Magni, Paolo; Bellazzi, Riccardo | |
| The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q131.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. | 1-gen-2007 | Panza, E.; Gimelli, G.; Passalacqua, M.; Cohen, A.; Gimelli, Stefania; Giglio, S.; Ghezzi, C.; Sparatore, B.; Heye, B.; Zuffardi, Orsetta; Rugarli, E.; Meitinger, T.; Romeo, G.; Ravazzolo, R.; Seri, M. | |
| The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24;q11.21) in a young girl with dysgerminoma. | 1-gen-2009 | Gimelli, Stefania; Beri, S; Drabkin, Ha; Gambini, C; Gregorio, A; Fiorio, P; Zuffardi, Orsetta; Gemmill, Rm; Giorda, R; Gimelli, G. |