Angela Mormile
Angela Mormile
Verified email at unina.it
Title
Cited by
Cited by
Year
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ...
Italian journal of pediatrics 42 (1), 1-11, 2016
222016
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ...
American Journal of Medical Genetics Part A 158 (4), 832-835, 2012
202012
Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
P Fontana, R Genesio, A Casertano, G Cappuccio, A Mormile, L Nitsch, ...
Gene 538 (1), 69-73, 2014
182014
Constitutional chromothripsis involving the critical region of 9q21. 13 microdeletion syndrome
R Genesio, P Fontana, A Mormile, A Casertano, M Falco, A Conti, ...
Molecular cytogenetics 8 (1), 1-6, 2015
142015
Pure 16q21q22. 1 deletion in a complex rearrangement possibly caused by a chromothripsis event
R Genesio, V Ronga, P Castelluccio, G Fioretti, A Mormile, G Leone, ...
Molecular cytogenetics 6 (1), 1-8, 2013
102013
An emerging phenotype of proximal 11q deletions
D Melis, R Genesio, M Cozzolino, E Del Giudice, A Mormile, F Imperati, ...
European journal of medical genetics 53 (5), 340-343, 2010
82010
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X; 1 translocation
R Genesio, A Mormile, MR Licenziati, D De Brasi, G Leone, S Balzano, ...
Molecular cytogenetics 8 (1), 1-8, 2015
62015
Microdeletion of pseudogene chr14. 232. a affects LRFN5 expression in cells of a patient with autism spectrum disorder
G Cappuccio, S Attanasio, M Alagia, M Mutarelli, R Borzone, M Karali, ...
European Journal of Human Genetics 27 (9), 1475-1480, 2019
42019
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring
D Melis, R Genesio, E Del Giudice, R Taurisano, A Mormile, F D’Elia, ...
Clinical dysmorphology 21 (1), 27-32, 2012
42012
Prenatally diagnosed distal 16p11. 2 microdeletion with a novel association with congenital diaphragmatic hernia: A case report
R Genesio, GM Maruotti, G Saccone, A Mormile, A Conti, R Cicatiello, ...
Clinical case reports 6 (4), 592, 2018
32018
A pseudogene increasing LRFN5 expression in a patient with 14q21. 2 deletion and autism
G Cappuccio, M Alagia, R Borzone, S Attanasio, R Genesio, A Mormile, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 231-232, 2019
2019
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