Orteschi, Daniela
Dettaglio
Orteschi, Daniela
Pubblicazioni
Risultati 1 - 20 di 37 (tempo di esecuzione: 0.0 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 2010 | A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus | Neri, Giovanni; Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; De Crescenzo, V.; Pecile, V.; Riccio, A. | - |
2 | 2010 | A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. | Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; De Crescenzo, A; Pecile, V; Riccio, A. | - |
3 | 2012 | Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions | Onesimo, Roberta; Orteschi, Daniela; Scalzone, Maria; Rossodivita, Aurora Natalia; Nanni, Lorenzo; Zannoni, Gian Franco; Marrocco, Giacinto Antonio; Battaglia, Domenica Immacolata; Fundarò, Carlo; Neri, Giovanni | Open Access |
4 | 2012 | Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. | Neri, Giovanni; Onesimo, Roberta; Orteschi, Daniela; Scalzone, Maria; Rossodivita, Aurora Natalia; Nanni, Lorenzo; Zannoni, Gian Franco; Marrocco, G.; Battaglia, Domenica Immacolata; Fundaro', Carlo | - |
5 | 2017 | The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use | D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Esther; Scambia, Giovanni; Zollino, Marcella | Open Access |
6 | 2017 | The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. | D'Ippolito, S; Di Simone, N; Orteschi, D; Pomponi, Mg; Genuardi, M; Sisti, Lg; Castellani, R; Rossi, Ed; Scambia, G; Zollino, M. | - |
7 | 2009 | Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case | Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella | - |
8 | 2009 | Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. | Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella | - |
9 | 2012 | Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. | Marangi, Giuseppe; Orteschi, Daniela; Vigevano, F; Felie, J; Walsh, Ca; Manzini, Mc; Neri, Giovanni | - |
10 | 2013 | Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study | Mangiola, Annunziato; Saulnier, Nathalie; De Bonis, Pasquale; Orteschi, Daniela; Sica, Gigliola; Lama, Gina; Pettorini, Bl; Sabatino, Giovanni; Zollino, Marcella; Lauriola, Libero; Colabianchi, Anna; Proietti, G; Kovacs, G; Maira, Giulio; Anile, Carmelo | - |
11 | 2013 | Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study | Mangiola, Annunziato; Saulnier, Nathalie; De Bonis, Pasquale; Orteschi, Daniela; Sica, Gigliola; Lama, Gina; Pettorini, Benedetta Ludovica; Sabatino, Giovanni; Zollino, Marcella; Lauriola, Libero; Colabianchi, Anna; Proietti, Giovanni; Kovacs, G; Maira, Giulio; Anile, Carmelo | - |
12 | 2017 | Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 | Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H.; Zackai, Elaine; Zollino, Marcella | - |
13 | 2011 | Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome | Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe | - |
14 | 2011 | Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. | Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Leuzzi, V. | - |
15 | 2013 | Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family | Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella | - |
16 | 2015 | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients | Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E. | - |
17 | 2013 | Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. | Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo Lorenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonia; Bellocci, Fulvio; Neri, Giovanni; Coll Vidal, Monica; Partemi, Sara; Brugada, R. | - |
18 | 2012 | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype | Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Domenica Immacolata; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe | - |
19 | 2012 | Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype | Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Dario; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe | - |
20 | 2015 | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome | Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, I; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, E; Slavotinek, Am; Zollino, Marcella | - |