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 …
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 …
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 …
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 …
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 …
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 …
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
The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple
membrane modeling and membrane-independent cellular processes. Here we describe six …
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
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 …
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 …
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
Proteus syndrome (PS) is an ultra‐rare disease characterized by progressive,
disproportionate, segmental overgrowth caused by a somatic gain‐of‐function mutation p …
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 …
mainly associated with the multisystem developmental disorder known as KBG syndrome …