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

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome

(2015) Kirin Basuta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7

(2015) Heather Trang et al.   JAMA Neurology

Diversity in theandrogen receptorCAG repeat has been shaped by a multistep mutational mechanism

(2014) Diana Santos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

(2014) Sarah L. Nolin et al.   GENETICS IN MEDICINE

Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

(2014) Sandra Martins et al.   HUMAN GENETICS

To Switch or Not to Switch: At the Origin of Repeat Expansion Disease

(2014) Ekaterina V. Mirkin et al.   MOLECULAR CELL

Clinical and molecular implications of mosaicism in FMR1 full mutations

(2014) Dalyir Pretto et al.   Frontiers in Genetics

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

(2013) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Development and validation of a multiplex-PCR assay for X-linked intellectual disability

(2013) Paula Jorge et al.   BMC Medical Genetics

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event

(2013) Susana Isabel Ferreira et al.   GENE

Single Nucleotide Polymorphism and FMR1 CGG Repeat Instability in Two Basque Valleys

(2012) Maitane Barasoain et al.   ANNALS OF HUMAN GENETICS

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

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

(2011) Sarah L. Nolin et al.   PRENATAL DIAGNOSIS

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

(2008) Randell T. Libby et al.   PLoS Genetics