Lista de obras - Flora Tassone - Dominio Público Uruguay

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Abnormal nerve conduction features in fragile X premutation carriers

artículo científico publicado en 2008

Advanced technologies for the molecular diagnosis of fragile X syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Age-Dependent Structural Connectivity Effects in Fragile X Premutation ⬇️

artículo científico publicado el 1 de abril de 2012

Aging in fragile X syndrome.

artículo científico publicado en 2010

Aging in individuals with the FMR1 mutation

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2022

Differential increases of specific FMR1 mRNA isoforms in premutation carriers

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado el 21 de diciembre de 2012

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

artículo científico publicado en 2012

Fibroblast phenotype in male carriers of FMR1 premutation alleles

artículo científico publicado en 2009

Fragile X Syndrome in a Colombian Family

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

artículo científico publicado en 2003

Fragile X syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Fragile x syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Genetic cluster of fragile X syndrome in a Colombian district

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de junio de 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Neural progenitor cells from an adult patient with fragile X syndrome

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Phenobarbital use and neurological problems in FMR1 premutation carriers

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado el 19 de septiembre de 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de mayo de 2003

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

artículo científico publicado el 19 de julio de 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2020

Lista de obras de 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)