Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review

C Leoni, R Blandino, AB Delogu… - American Journal of …, 2022 - Wiley Online Library
Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common
features in patients affected by RASopathies. The aim of this study was to assess genotype …

[HTML][HTML] Drooling outcome measures in paediatric disability: a systematic review

E Sforza, R Onesimo, C Leoni, V Giorgio, F Proli… - European Journal of …, 2022 - Springer
Drooling, or sialorrhea, is a common condition in patients with cerebral palsy, rare diseases,
and neurodevelopmental disorders. The goal of this review was to identify the different …

A multicentre retrospective study of 66 I talian children with food protein‐induced enterocolitis syndrome: different management for different phenotypes

SM Sopo, V Giorgio, ID Iacono… - Clinical & …, 2012 - Wiley Online Library
Abstract Background Food Protein‐Induced Enterocolitis Syndrome (FPIES) is a non‐IgE‐
mediated paediatric disorder triggered by the ingestion of specific food proteins. Many …

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …

A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

[HTML][HTML] Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch …

M Pane, B Berti, A Capasso, G Coratti, A Varone… - …, 2023 - thelancet.com
Background Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …

[PDF][PDF] De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment

C Rodger, E Flex, RJ Allison, A Sanchis-Juan… - The American Journal of …, 2020 - cell.com
The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple
membrane modeling and membrane-independent cellular processes. Here we describe six …

[HTML][HTML] Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M Maghnie, O Semler, E Guillen-Navarro… - Orphanet Journal of …, 2023 - Springer
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor
receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of …

Responsiveness to intravenous immunoglobulins and occurrence of coronary artery abnormalities in a single-center cohort of Italian patients with Kawasaki syndrome

D Rigante, P Valentini, D Rizzo, A Leo… - Rheumatology …, 2010 - Springer
Clues to predict the response to intravenous immunoglobulins (IVIG) and the development
of coronary artery abnormalities (CAA) in children with Kawasaki syndrome (KS) are still …

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

C Leoni, G Gullo, N Resta, A Fagotti… - American Journal of …, 2019 - Wiley Online Library
Proteus syndrome (PS) is an ultra‐rare disease characterized by progressive,
disproportionate, segmental overgrowth caused by a somatic gain‐of‐function mutation p …

ANKRD11 variants: KBG syndrome and beyond

I Parenti, MB Mallozzi, I Hüning, C Gervasini… - Clinical …, 2021 - Wiley Online Library
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are
mainly associated with the multisystem developmental disorder known as KBG syndrome …