Margherita Lerone
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View article: Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing Open
Introduction: Nowadays, whole-exome sequencing (WES) analysis is an essential part in the diagnostic pathway of individuals with complex phenotypes when routine exams, such as array-CGH and gene panels, have proved inconclusive. However, d…
View article: Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs Open
Neurodevelopmental disorders (NDDs) are a heterogeneous class of brain diseases, with a complex genetic basis estimated to account for up to 50% of cases. Nevertheless, genetic diagnostic yield is about 20%. Array-comparative genomic hybri…
View article: Molecular Genetics in Neuroblastoma Prognosis
Molecular Genetics in Neuroblastoma Prognosis Open
In recent years, much research has been carried out to identify the biological and genetic characteristics of the neuroblastoma (NB) tumor in order to precisely define the prognostic subgroups for improving treatment stratification. This r…
View article: Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances Open
Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and …
View article: Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) Open
View article: Renal involvement and Strømme syndrome
Renal involvement and Strømme syndrome Open
Strømme syndrome is a rare autosomal recessive congenital disorder involving multiple systems. Centromeric protein F (CENPF) is the causative gene of the disease, and variants are usually linked to lethal outcomes either during the foetal …
View article: P63 modulates the expression of the<i>WDFY2</i>gene which is implicated in cancer regulation and limb development
P63 modulates the expression of the<i>WDFY2</i>gene which is implicated in cancer regulation and limb development Open
TP63 is a member of the TP53 gene family, sharing a common gene structure that produces two groups of mRNAs’ encoding proteins with different N-terminal regions (ΔN and TA isoforms); both transcripts are also subjected to alternative splic…
View article: In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) Open
View article: Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma
Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma Open
This is the first report of a constitutional 3p26.3 deletion in a NB patient. Since larger deletions of 3p, indicative of the presence of one or more tumor suppressor genes in this region, occur frequently in neuroblastoma, our results pav…
View article: Assessment of copy number variations in 120 patients with Poland syndrome
Assessment of copy number variations in 120 patients with Poland syndrome Open
A number of rare CNVs were identified in PS patients, and these involve genes that represent candidates for further evaluation. Rare inherited CNVs may contribute to, or represent risk factors of PS in a multifactorial mode of inheritance.
View article: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction Open
View article: Additional file 1: of Assessment of copy number variations in 120 patients with Poland syndrome
Additional file 1: of Assessment of copy number variations in 120 patients with Poland syndrome Open
Figure S1. Quantitative polymerase chain reaction. In the Figure, examples of qPCR results obtained from three PS patients carrying three different CNVs are shown. A) Patient PS16: primers were designed to amplify a region encompassed by t…
View article: Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case Open
View article: Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion Open
In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotyp…