Size and methylation mosaicism in males with Fragile X syndrome

FindingFMR1mosaicism in Fragile X syndrome

(2016) Thaís Fernandez Gonçalves et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

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

A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders

(2016) Bruce E. Hayward et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders

(2016) Xiao-Nan Zhao et al.   Genes

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

(2014) A. L. Ludwig et al.   HUMAN MOLECULAR GENETICS

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

Fragile X syndrome: From protein function to therapy

(2013) Claudia Bagni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1locus

(2013) Reid S Alisch et al.   BMC Medical Genetics

Think About It

(2013) Francesca Andrea Bonarrigo et al.   JOURNAL OF CHILD NEUROLOGY

A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

(2013) Mary Jacena S. Leigh et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Role of CTCF Protein in Regulating FMR1 Locus Transcription

(2013) Stella Lanni et al.   PLoS Genetics

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome

(2010) D. Kumari et al.   HUMAN MOLECULAR GENETICS

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

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome

(2009) Anja Naumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Examination of FMR1 transcript and protein levels among 74 premutation carriers

(2009) Emmanuel Peprah et al.   JOURNAL OF HUMAN GENETICS

MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

(2008) Bradford Coffee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

(2008) Elisabetta Tabolacci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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