FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

(2018) Sébastien Jacquemont et al.   HUMAN MOLECULAR GENETICS

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

(2017) Esther Manor et al.   Frontiers in Genetics

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

(2016) Nuno Maia et al.   JOURNAL OF HUMAN GENETICS

Dysregulation and restoration of translational homeostasis in fragile X syndrome

(2015) Joel D. Richter et al.   NATURE REVIEWS NEUROSCIENCE

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

Clinical and molecular implications of mosaicism in FMR1 full mutations

(2014) Dalyir Pretto et al.   Frontiers in Genetics

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

(2013) Valentina Gatta et al.   BMC Medical Genetics

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

(2013) Marina Grasso et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Intranuclear inclusions in a fragile X mosaic male

(2013) Dalyir I Pretto et al.   Translational Neurodegeneration

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

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

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

The FRAXopathies: Definition, overview, and update

(2011) Filomena Pirozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Liangjing Chen et al.   GENETICS IN MEDICINE

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

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome

(2011) Reinhard Stöger et al.   PLoS One

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization

(2010) Lisa Cordeiro et al.   Journal of Neurodevelopmental Disorders

Broad Clinical Involvement in a Family Affected by the Fragile X Premutation

(2009) Weerasak Chonchaiya et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis

(2008) Claudia M. Greco et al.   ARCHIVES OF NEUROLOGY