List of works - Flora Tassone

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

scientific article

A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome

scientific article published on April 2013

A review of fragile X premutation disorders: expanding the psychiatric perspective

scientific article

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome

scientific article published on March 2009

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome

scientific article

Abnormal nerve conduction features in fragile X premutation carriers

scientific article

Advanced technologies for the molecular diagnosis of fragile X syndrome

scientific article

Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome?

scientific article published in February 2018

Age-Dependent Structural Connectivity Effects in Fragile X Premutation ⬇️

scientific article published on April 1, 2012

Aging in fragile X syndrome.

scientific article

Aging in individuals with the FMR1 mutation

scientific article

Alcohol use dependence in fragile X syndrome

scientific article published on August 2016

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

scientific article

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands

scientific article

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

scientific article

Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome

scientific article published on 10 June 2020

Brief report: Sensorimotor gating in idiopathic autism and autism associated with fragile X syndrome

scientific article

Broad clinical involvement in a family affected by the fragile X premutation

scientific article

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

scientific article

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

scientific article

Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome

scientific article

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

scientific article

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome

scientific article

Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data

scientific article

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome

scientific article

Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.

scientific article

Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri

scientific article published in 2022

Differential increases of specific FMR1 mRNA isoforms in premutation carriers

scientific article

Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder

scientific article published on 15 September 2020

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

scientific article published on 04 December 2020

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States ⬇️

scientific article published on December 21, 2012

Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene.

scientific article

Fibroblast phenotype in male carriers of FMR1 premutation alleles

scientific article

Fragile X Syndrome in a Colombian Family

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

scientific article

Fragile X syndrome

2014 scientific article

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

scientific article

Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

scientific article

Fragile x syndrome

2011 scientific article

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

scientific article

Genetic cluster of fragile X syndrome in a Colombian district

scientific article

Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome

scientific article

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses ⬇️

scientific article published on June 1, 2011

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

scientific article

Investigation of amygdala volume in men with the fragile X premutation.

scientific article published on December 2011

Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding

scientific article

Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice

scientific article published in 2022

Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study

scientific article

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

scientific article

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

scientific article

Neural progenitor cells from an adult patient with fragile X syndrome

scientific article

Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study

scientific article

Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited

scientific article

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

scientific article (publication date: 28 January 2004)

Phenobarbital use and neurological problems in FMR1 premutation carriers

scientific article

Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?

scientific article published on 25 January 2010

Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene

scientific article

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding

scientific article published on 19 April 2016

Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome

scientific article

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

scientific article

Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

scientific article

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease

scientific article published on 26 February 2020

Rare FMR1 gene mutations causing fragile X syndrome: A review.

scientific article published on 27 November 2017

Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation.

scientific article published on January 2008

Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome

scientific article

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.

scientific article

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model

scientific article published on 01 March 2019

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

scientific article

Sleep apnea in fragile X premutation carriers with and without FXTAS ⬇️

scientific article published on September 19, 2011

Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome

scientific article

The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery

scientific article

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome ⬇️

scientific article published on May 1, 2003

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles ⬇️

scientific article published on July 19, 2011

The development of cognitive control in children with chromosome 22q11.2 deletion syndrome

scientific article

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

scientific article

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

scientific article

Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS)

scientific article published on 05 October 2020

List of works by Flora Tassone

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome

A review of fragile X premutation disorders: expanding the psychiatric perspective

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome

Abnormal nerve conduction features in fragile X premutation carriers

Advanced technologies for the molecular diagnosis of fragile X syndrome

Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome?

Age-Dependent Structural Connectivity Effects in Fragile X Premutation ⬇️

Aging in fragile X syndrome.

Aging in individuals with the FMR1 mutation

Alcohol use dependence in fragile X syndrome

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome

Brief report: Sensorimotor gating in idiopathic autism and autism associated with fragile X syndrome

Broad clinical involvement in a family affected by the fragile X premutation

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome

Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome

Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.

Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri

Differential increases of specific FMR1 mRNA isoforms in premutation carriers

Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States ⬇️

Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene.

Fibroblast phenotype in male carriers of FMR1 premutation alleles

Fragile X Syndrome in a Colombian Family

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

Fragile x syndrome

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

Genetic cluster of fragile X syndrome in a Colombian district

Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses ⬇️

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Investigation of amygdala volume in men with the fragile X premutation.

Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding

Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice

Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

Neural progenitor cells from an adult patient with fragile X syndrome

Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study

Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Phenobarbital use and neurological problems in FMR1 premutation carriers

Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?

Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding

Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation.

Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

Sleep apnea in fragile X premutation carriers with and without FXTAS ⬇️

Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome

The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome ⬇️

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles ⬇️

The development of cognitive control in children with chromosome 22q11.2 deletion syndrome

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS)