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
11.
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Cirillo Silengo M, et al.
Am J Med Genet A
. 2011 Oct;
155A(11):2746-9.
PMID: 21990121
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary...
12.
Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, et al.
Hum Mol Genet
. 2011 Sep;
21(1):10-25.
PMID: 21920939
A cluster of imprinted genes at chromosome 11p15.5 is associated with the growth disorders, Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). The cluster is divided into two domains with independent...
13.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio M, Cirillo Silengo M, et al.
Orphanet J Rare Dis
. 2011 Jun;
6:38.
PMID: 21658225
Background: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects....
14.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, et al.
Hum Mutat
. 2011 Mar;
32(7):760-72.
PMID: 21387466
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the...
15.
Mussa A, Chiesa N, Porta F, Baldassarre G, Cirillo Silengo M, Ferrero G
J Pediatr
. 2010 Apr;
156(6):1035-1036.
PMID: 20394943
No abstract available.
16.
Cirstea I, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, et al.
Nat Genet
. 2009 Dec;
42(1):27-9.
PMID: 19966803
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we...
17.
Ferrero G, Porta F, Biamino E, Mussa A, Garelli E, Chiappe F, et al.
Eur J Pediatr
. 2009 Jul;
169(3):369-72.
PMID: 19618212
Congenital portosystemic shunts (PSS) are rare vascular anomalies with different gross anatomy. Persistent patent ductus venosus (PDV) represents an uncommon cause of intrahepatic PSS. The diagnosis of this condition may...
18.
Ferrero G, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, et al.
Eur J Pediatr
. 2009 Jun;
169(2):223-8.
PMID: 19536562
Background: Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed...
19.
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Belligni E, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, et al.
Ital J Pediatr
. 2009 Jun;
35(1):9.
PMID: 19490664
Background: Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to...
20.
Riccio A, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis M, et al.
Endocr Dev
. 2009 Mar;
14:1-9.
PMID: 19293570
The parent-of-origin-dependent expression of IGF2 and H19 is controlled by the imprinting center 1 (IC1) consisting of a methylation-sensitive chromatin insulator. IC1 is normally methylated on the paternal chromosome and...