MORMILE, ANGELA
MORMILE, ANGELA
Dipartimento di Medicina molecolare e Biotecnologie mediche
Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.
2013 Genesio, R; Ronga, V; Castelluccio, P; Fioretti, G; Mormile, Angela; Leone, G; Conti, Anna; Cavaliere, Ml; Nitsch, Lucio
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
2016 Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
2015 Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela
Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
2018 Genesio, Rita; Maruotti, Giuseppe Maria; Saccone, Gabriele; Mormile, Angela; Conti, Anna; Cicatiello, Rita; Sarnataro, Viviana; Sirico, Angelo; Izzo, Antonella; Martinelli, Pasquale; Nitsch, Lucio
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation
2015 Genesio, Rita; Mormile, Angela; Licenziati, Maria Rosaria; De Brasi, Daniele; Leone, Graziella; Balzano, Sara; Izzo, Antonella; Bonfiglio, Ferdinando; Conti, Anna; Fioretti, Gennaro; Lenta, Selvaggia; Poggiano, Maria Rita; Siani, Paolo; Nitsch, Lucio
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event. | 1.1 Articolo in rivista | 2013 | Genesio, R; Ronga, V; Castelluccio, P; Fioretti, G; Mormile, Angela; Leone, G; Conti, Anna; Cavaliere, Ml; Nitsch, Lucio | |
| New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants | 1.1 Articolo in rivista | 2016 | Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome | 1.1 Articolo in rivista | 2015 | Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela | |
| Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report | 1.1 Articolo in rivista | 2018 | Genesio, Rita; Maruotti, Giuseppe Maria; Saccone, Gabriele; Mormile, Angela; Conti, Anna; Cicatiello, Rita; Sarnataro, Viviana; Sirico, Angelo; Izzo, Antonella; Martinelli, Pasquale; Nitsch, Lucio | |
| Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation | 1.1 Articolo in rivista | 2015 | Genesio, Rita; Mormile, Angela; Licenziati, Maria Rosaria; De Brasi, Daniele; Leone, Graziella; Balzano, Sara; Izzo, Antonella; Bonfiglio, Ferdinando; Conti, Anna; Fioretti, Gennaro; Lenta, Selvaggia; Poggiano, Maria Rita; Siani, Paolo; Nitsch, Lucio |