CIONI, MADDALENA
CIONI, MADDALENA
Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age
2010-01-01 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A.
Chromosome 18 aberrations and epilepsy: a review
2005-01-01 Grosso, S.; Pucci, L.; DI BARTOLO, R. M.; Gobbi, G.; Bartalini, G.; Anichini, C.; Scarinci, R.; Balestri, M.; Farnetani, M. A.; Cioni, M.; Morgese, G.; Balestri, P.
CKAP2L mutation confirms the diagnosis of Filippi syndrome
2018-01-01 Capecchi, G.; Baldassarri, M.; Ferranti, S.; Guidoni, E.; Cioni, M.; Nurnberg, P.; Mencarelli, M. A.; Renieri, A.; Grosso, S.
Complete deletion of USP9Y gene in normospermic man: new insights into human Y AZFa gene function in spermatogenesis
2008-01-01 Piomboni, P.; Margollicci, M.; Serafini, F.; Gambera, L.; Cioni, M.; De Leo, V.; Luddi, A.
De novo complete trisomy 5p clinical and neuroradiological findings
2002-01-01 Grosso, S.; Cioni, M.; Garibaldi, G.; Pucci, L.; Galluzzi, P.; Canapicchi, R.; Morgese, G.; Balestri, P.
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria
2000-01-01 Bellieni, C. V.; Ferrari, F.; DE FELICE, C.; Bagnoli, F.; Cioni, M.; Farnetani, M.; Gatti, M. G.; Buonocore, G.
Efficacy and safety of topiramate in infants according to epilepsy syndromes
2005-01-01 Grosso, S.; Galimberti, D.; Farnetani, M. A.; Cioni, M.; Mostardini, R.; Vivarelli, R.; DI BARTOLO, R. M.; Bernardoni, E.; Berardi, R.; Morgese, G.; Balestri, P.
Growth hormone secretion in Prader-Willi syndrome
1988-01-01 Grosso, S.; Cioni, M.; Buoni, S.; Peruzzi, L.; Pucci, L.; Berardi, R.
HUNTER SYNDROME: FIRST ITALIAN CASE TREATED WITH ENZYME-REPLACEMENT THERAPY. TEN YEARS OF FOLLOW-UP
2017-01-01 De Rose, C.; Angotti, R.; Cioni, M.; Sica, M.; Pellegrino, C.; Bindi, E.; Grande, E.; Gaggiano, C.; Cerrone, C.; Molinaro, F.; Messina, M.
Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa
2002-01-01 Grosso, S.; Mostadini, R.; Cioni, M.; Galluzzi, P.; Morgese, G.; Balestri, P.
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria
2001-01-01 Vivarelli, R.; Grosso, S.; Cioni, M.; Galluzzi, P.; Monti, L.; Morgese, G.; Balestri, P.
Schinzel-Giedion syndrome: a further cause of West syndrome
2003-01-01 Grosso, S.; Pagano, C.; Cioni, M.; DI BARTOLO, R. M.; Morgese, G.; Balestri, P.
Selective mutism, speech delay, dysmorphisms, and deletion of the short arm of chromosome 18: a distinct entity?
1999-01-01 Grosso, S.; Cioni, M.; Pucci, L.; Morgese, G.; Balestri, P.
Spermatogenesis in a man with complete deletion of USP9Y
2009-01-01 Luddi, A.; Margollicci, M. A.; Gambera, L.; Serafini, F.; Cioni, M.; DE LEO, V.; Balestri, P.; Piomboni, P.
Transient neonatal hypothyroidism after gestational exposure to amiodarone: a follow-up of two cases
1998-01-01 Grosso, S.; Berardi, R.; Cioni, M.; Morgese, G.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| 3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age | 1-gen-2010 | Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. | - | |
| Chromosome 18 aberrations and epilepsy: a review | 1-gen-2005 | Grosso, S.; Pucci, L.; DI BARTOLO, R. M.; Gobbi, G.; Bartalini, G.; Anichini, C.; Scarinci, R.; Balestri, M.; Farnetani, M. A.; Cioni, M.; Morgese, G.; Balestri, P. | - | |
| CKAP2L mutation confirms the diagnosis of Filippi syndrome | 1-gen-2018 | Capecchi, G.; Baldassarri, M.; Ferranti, S.; Guidoni, E.; Cioni, M.; Nurnberg, P.; Mencarelli, M. A.; Renieri, A.; Grosso, S. | - | |
| Complete deletion of USP9Y gene in normospermic man: new insights into human Y AZFa gene function in spermatogenesis | 1-gen-2008 | Piomboni, P.; Margollicci, M.; Serafini, F.; Gambera, L.; Cioni, M.; De Leo, V.; Luddi, A. | - | |
| De novo complete trisomy 5p clinical and neuroradiological findings | 1-gen-2002 | Grosso, S.; Cioni, M.; Garibaldi, G.; Pucci, L.; Galluzzi, P.; Canapicchi, R.; Morgese, G.; Balestri, P. | - | |
| EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria | 1-gen-2000 | Bellieni, C. V.; Ferrari, F.; DE FELICE, C.; Bagnoli, F.; Cioni, M.; Farnetani, M.; Gatti, M. G.; Buonocore, G. | - | |
| Efficacy and safety of topiramate in infants according to epilepsy syndromes | 1-gen-2005 | Grosso, S.; Galimberti, D.; Farnetani, M. A.; Cioni, M.; Mostardini, R.; Vivarelli, R.; DI BARTOLO, R. M.; Bernardoni, E.; Berardi, R.; Morgese, G.; Balestri, P. | - | |
| Growth hormone secretion in Prader-Willi syndrome | 1-gen-1988 | Grosso, S.; Cioni, M.; Buoni, S.; Peruzzi, L.; Pucci, L.; Berardi, R. | - | |
| HUNTER SYNDROME: FIRST ITALIAN CASE TREATED WITH ENZYME-REPLACEMENT THERAPY. TEN YEARS OF FOLLOW-UP | 1-gen-2017 | De Rose, C.; Angotti, R.; Cioni, M.; Sica, M.; Pellegrino, C.; Bindi, E.; Grande, E.; Gaggiano, C.; Cerrone, C.; Molinaro, F.; Messina, M. | - | |
| Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa | 1-gen-2002 | Grosso, S.; Mostadini, R.; Cioni, M.; Galluzzi, P.; Morgese, G.; Balestri, P. | - | |
| Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria | 1-gen-2001 | Vivarelli, R.; Grosso, S.; Cioni, M.; Galluzzi, P.; Monti, L.; Morgese, G.; Balestri, P. | - | |
| Schinzel-Giedion syndrome: a further cause of West syndrome | 1-gen-2003 | Grosso, S.; Pagano, C.; Cioni, M.; DI BARTOLO, R. M.; Morgese, G.; Balestri, P. | - | |
| Selective mutism, speech delay, dysmorphisms, and deletion of the short arm of chromosome 18: a distinct entity? | 1-gen-1999 | Grosso, S.; Cioni, M.; Pucci, L.; Morgese, G.; Balestri, P. | - | |
| Spermatogenesis in a man with complete deletion of USP9Y | 1-gen-2009 | Luddi, A.; Margollicci, M. A.; Gambera, L.; Serafini, F.; Cioni, M.; DE LEO, V.; Balestri, P.; Piomboni, P. | - | |
| Transient neonatal hypothyroidism after gestational exposure to amiodarone: a follow-up of two cases | 1-gen-1998 | Grosso, S.; Berardi, R.; Cioni, M.; Morgese, G. | - |