Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity

Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications

(2022) Ramkumar Aishworiya et al.   JOURNAL OF NEUROLOGY

The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities

(2021) Alice Romagnoli et al.   Frontiers in Psychiatry

The Brief Observation of Symptoms of Autism (BOSA): Development of a New Adapted Assessment Measure for Remote Telehealth Administration Through COVID-19 and Beyond

(2021) Deanna Dow et al.   JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions

(2020) Kyoungmi Kim et al.   PLoS One

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity

(2020) Leonard Abbeduto et al.   Journal of Neurodevelopmental Disorders

A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

(2019) Claudia Bagni et al.   NEURON

The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour

(2019) Nuria Domínguez-Iturza et al.   Nature Communications

Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism

(2018) Rezvan Noroozi et al.   METABOLIC BRAIN DISEASE

Autism Symptoms in Fragile X Syndrome

(2017) Manman Niu et al.   JOURNAL OF CHILD NEUROLOGY

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

(2017) Walter E. Kaufmann et al.   PEDIATRICS

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

(2014) Jessica Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

(2014) Sabiha Abekhoukh et al.   Frontiers in Cellular Neuroscience

Development of an Expressive Language Sampling Procedure in Fragile X Syndrome

(2013) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

(2012) Claudia Bagni et al.   JOURNAL OF CLINICAL INVESTIGATION

Evidence of a Distinct Behavioral Phenotype in Young Boys With Fragile X Syndrome and Autism

(2012) Jason J. Wolff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness

(2011) Andrés Ingason et al.   AMERICAN JOURNAL OF PSYCHIATRY

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

(2010) S. Filipovic-Sadic et al.   CLINICAL CHEMISTRY

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS