CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model

(2013) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Immune-mediated disorders among women carriers of fragile X premutation alleles

(2012) Tri Indah Winarni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

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

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments

(2011) Naomi J. Goodrich-Hunsaker et al.   BRAIN AND COGNITION

Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

(2011) Naomi J. Goodrich-Hunsaker et al.   Frontiers in Human Neuroscience

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

Enhanced Manual and Oral Motor Reaction Time in Young Adult Female Fragile X Premutation Carriers

(2011) Naomi J. Goodrich-Hunsaker et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

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

(2011) Carolyn M. Yrigollen et al.   PLoS One

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Examination of FMR1 transcript and protein levels among 74 premutation carriers

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

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE

Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey

(2008) Donald B. Bailey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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