Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

Fragile X premutation and associated health conditions: A review

(2021) Nattaporn Tassanakijpanich et al.   CLINICAL GENETICS

Fragile X syndrome and associated disorders: Clinical aspects and pathology

(2020) Maria Jimena Salcedo-Arellano et al.   NEUROBIOLOGY OF DISEASE

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

(2020) Kyoungmi Kim et al.   PLoS One

Genetic Modifiers and Rare Mendelian Disease

(2020) K. M. Tahsin Hassan Rahit et al.   Genes

Novel FMRP interaction networks linked to cellular stress

(2020) Mohamed S. Taha et al.   FEBS Journal

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome

(2020) Emma K. Baker et al.   Scientific Reports

Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations

(2020) Andrea Schneider et al.   Translational Psychiatry

Genetic modifiers in rare disorders: the case of fragile X syndrome

(2020) Hayley Crawford et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

(2020) Claudine M Kraan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Double Genetic Hit

(2020) Wilmar Saldarriaga et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

(2020) Dejan B. Budimirovic et al.   Brain Sciences

A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

(2019) Claudia Bagni et al.   NEURON

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

(2019) Emma K. Baker et al.   Molecular Autism

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

(2019) Emma K. Baker et al.   Journal of Neurodevelopmental Disorders

Epigenetics of fragile X syndrome and fragile X-related disorders

(2018) Claudine M Kraan et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Size and methylation mosaicism in males with Fragile X syndrome

(2017) Poonnada Jiraanont et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

(2017) Stephanie L. Sherman et al.   PEDIATRICS

Fragile X syndrome

(2017) Randi J. Hagerman et al.   Nature Reviews Disease Primers

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

(2015) S. M. Aliaga et al.   CLINICAL CHEMISTRY

Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes

(2015) B. Stepniak et al.   EMBO Molecular Medicine

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

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

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

(2013) L. Santa María et al.   CLINICAL GENETICS

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

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

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

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

(2011) D Z Loesch et al.   CLINICAL GENETICS

Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?

(2011) Mireia Tondo et al.   EPILEPSY & BEHAVIOR

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

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome

(2009) Verna Louhivuori et al.   EPILEPSY RESEARCH

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