Margherita Cirillo Silengo
Overview
Explore the profile of Margherita Cirillo Silengo including associated specialties, affiliations and a list of published articles.
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32
Citations
1085
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Recent Articles
1.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni E, et al.
Am J Med Genet A
. 2016 Apr;
170(7):1772-9.
PMID: 27108886
Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two...
2.
Biamino E, Di Gregorio E, Belligni E, Keller R, Riberi E, Gandione M, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2015 Dec;
171B(2):290-9.
PMID: 26620927
Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum disorder (ASD), and schizophrenia (SCZ). Often, individuals carrying the same...
3.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, et al.
Eur J Hum Genet
. 2015 Apr;
24(2):183-90.
PMID: 25898929
Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular...
4.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, et al.
Hum Genet
. 2015 Mar;
134(6):613-26.
PMID: 25805166
Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP...
5.
Di Gregorio E, Savin E, Biamino E, Belligni E, Naretto V, DAlessandro G, et al.
Mol Cytogenet
. 2014 Dec;
7(1):82.
PMID: 25435912
Background: Conventional karyotyping (550 bands resolution) is able to identify chromosomal aberrations >5-10 Mb, which represent a known cause of intellectual disability/developmental delay (ID/DD) and/or multiple congenital anomalies (MCA). Array-Comparative...
6.
Mussa A, Pagliardini S, Pagliardini V, Molinatto C, Baldassarre G, Corrias A, et al.
Pediatr Res
. 2014 Aug;
76(6):544-8.
PMID: 25167201
Background: Beckwith-Wiedemann syndrome (BWS) and hemihyperplasia (HH) are overgrowth conditions with predisposition to hepatoblastoma for which early diagnosis patients undergo cancer screening based on determination of the tumor marker α-fetoprotein...
7.
Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, et al.
Am J Med Genet A
. 2013 Aug;
161A(10):2481-6.
PMID: 23918458
Although Beckwith-Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates of its occurrence show wide variability. The aim...
8.
Timeus F, Crescenzio N, Baldassarre G, Doria A, Vallero S, Foglia L, et al.
Oncol Rep
. 2013 Jun;
30(2):553-9.
PMID: 23756559
Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, multiple dysmorphisms and congenital heart defects. A myeloproliferative disorder (NS/MPD), resembling juvenile myelomonocytic leukemia (JMML), is occasionally diagnosed...
9.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, et al.
Hum Mol Genet
. 2012 Nov;
22(3):544-57.
PMID: 23118352
At chromosome 11p15.5, the imprinting centre 1 (IC1) controls the parent of origin-specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target sites (CTS)...
10.
Belligni E, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, et al.
Eur J Med Genet
. 2012 Feb;
55(3):222-4.
PMID: 22365944
We report a patient with a moderate mental retardation, afebrile seizure, mild dysmorphic features and type 2 diabetes mellitus with mild obesity and metabolic syndrome. Array-CGH analysis revealed a de...