Saverio Scianguetta
Overview
Explore the profile of Saverio Scianguetta including associated specialties, affiliations and a list of published articles.
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20
Citations
311
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Recent Articles
11.
Casale M, Borriello A, Scianguetta S, Roberti D, Caiazza M, Bencivenga D, et al.
Am J Hematol
. 2017 Nov;
93(3):E58-E60.
PMID: 29178181
No abstract available.
12.
Borriello A, Caldarelli I, Speranza M, Scianguetta S, Tramontano A, Bencivenga D, et al.
Biochim Biophys Acta
. 2016 Feb;
1860(6):1211-23.
PMID: 26850692
Background: Iron overload syndromes include a wide range of diseases frequently associated with increased morbidity and mortality. Several organs are affected in patients with iron overload including liver, heart, joints,...
13.
Perrotta S, Di Iorgi N, Della Ragione F, Scianguetta S, Borriello A, Allegri A, et al.
Eur J Endocrinol
. 2015 Mar;
172(4):461-72.
PMID: 25740874
Objective: Idiopathic early-onset central diabetes insipidus (CDI) might be due to mutations of arginine vasopressin-neurophysin II (AVP-NPII (AVP)) or wolframin (WFS1) genes. Design And Methods: Sequencing of AVP and WFS1...
14.
Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, et al.
BMC Med Genet
. 2014 Apr;
15:44.
PMID: 24767283
Background: Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another....
15.
Perrotta S, Stiehl D, Punzo F, Scianguetta S, Borriello A, Bencivenga D, et al.
Haematologica
. 2013 May;
98(10):1624-32.
PMID: 23716564
Hypoxia-inducible factor 2α (HIF-2α) plays a pivotal role in the balancing of oxygen requirements throughout the body. The protein is a transcription factor that modulates the expression of a wide...
16.
Mancusi S, La Manna A, Bellini G, Scianguetta S, Roberti D, Casale M, et al.
J Nephrol
. 2012 May;
26(1):207-12.
PMID: 22641569
Background: Maturity onset diabetes of young (MODY) type 5 is a form of non-insulin-dependent diabetes mellitus associated with renal cysts. It is an autosomal dominant disorder caused by mutations in...
17.
Punzo F, Bertoli-Avella A, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, et al.
Orphanet J Rare Dis
. 2012 Jan;
6:89.
PMID: 22208203
Background: Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that...
18.
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, et al.
Haematologica
. 2011 Sep;
97(1):82-8.
PMID: 21933849
Background: Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some...
19.
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, et al.
Blood
. 2011 Apr;
117(24):6673-80.
PMID: 21467542
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region...
20.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, et al.
Am J Hum Genet
. 2011 Jan;
88(1):115-20.
PMID: 21211618
THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another gene within the THC2...