Published in Genet Med on September 07, 2001
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. J Mol Diagn (2007) 3.80
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell (2010) 3.08
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Fragile X syndrome: diagnostic and carrier testing. Genet Med (2005) 2.45
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn (2009) 1.94
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88
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Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS One (2011) 1.75
Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings. J Neurodev Disord (2012) 1.73
G-quadruplex nucleic acids and human disease. FEBS J (2010) 1.58
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet (2012) 1.49
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res (2008) 1.46
Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice. Proc Natl Acad Sci U S A (2007) 1.37
Allosteric modulation of metabotropic glutamate receptors: structural insights and therapeutic potential. Neuropharmacology (2010) 1.30
Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes. Am J Intellect Dev Disabil (2010) 1.27
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19
Aberrant frontal lobe maturation in adolescents with fragile X syndrome is related to delayed cognitive maturation. Biol Psychiatry (2011) 1.19
A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Neurobiol Dis (2011) 1.18
Fragile X syndrome: an update on developing treatment modalities. ACS Chem Neurosci (2011) 1.18
Expressive language profiles of verbally expressive adolescents and young adults with Down syndrome or fragile X syndrome. J Speech Lang Hear Res (2010) 1.16
Exploring the adult life of men and women with fragile X syndrome: results from a national survey. Am J Intellect Dev Disabil (2011) 1.14
Comparison of methods for quantification of global DNA methylation in human cells and tissues. PLoS One (2013) 1.14
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 1.12
A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Soc Sci Med (2007) 1.11
Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry (2012) 1.10
Trajectories and predictors of the development of very young boys with fragile X syndrome. J Pediatr Psychol (2008) 1.09
Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. Ann Hum Genet (2011) 1.08
Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics (2011) 1.08
Interactions of the G quartet forming semaphorin 3F RNA with the RGG box domain of the fragile X protein family. Nucleic Acids Res (2007) 1.08
Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA. Hum Mol Genet (2010) 1.08
Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA. RNA (2008) 1.07
Brief report: Visual processing of faces in individuals with fragile X syndrome: an eye tracking study. J Autism Dev Disord (2009) 1.07
Physiological correlates of social avoidance behavior in children and adolescents with fragile x syndrome. J Am Acad Child Adolesc Psychiatry (2009) 1.07
Behavioral phenotype of fragile X syndrome in adolescence and adulthood. Am J Intellect Dev Disabil (2012) 1.06
Abnormal structure or function of the amygdala is a common component of neurodevelopmental disorders. Neuropsychologia (2010) 1.06
Potential therapeutic interventions for fragile X syndrome. Trends Mol Med (2010) 1.05
Glycogen synthase kinase-3: a promising therapeutic target for fragile x syndrome. Front Mol Neurosci (2011) 1.05
X linked mental retardation: a clinical guide. J Med Genet (2005) 1.05
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med (2009) 1.04
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA (2007) 1.04
Contrast detection in infants with fragile X syndrome. Vision Res (2008) 1.04
Language Development in Individuals with Fragile X Syndrome. Top Lang Disord (2009) 1.03
Delineation of early attentional control difficulties in fragile X syndrome: focus on neurocomputational changes. Neuropsychologia (2007) 1.03
Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Dev Disabil Res Rev (2009) 1.02
Brain function and gaze fixation during facial-emotion processing in fragile X and autism. Autism Res (2008) 0.99
Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav (2015) 0.96
Use of state administrative data sources to study adolescents and young adults with rare conditions. J Gen Intern Med (2014) 0.96
Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. J Speech Lang Hear Res (2009) 0.96
Investigating word learning in fragile X syndrome: a fast-mapping study. J Autism Dev Disord (2013) 0.95
The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice. Genes Brain Behav (2012) 0.95
Psychiatric symptoms in boys with fragile X syndrome: a comparison with nonsyndromic autism spectrum disorder. Res Dev Disabil (2014) 0.95
Matrix metalloproteinases and minocycline: therapeutic avenues for fragile X syndrome. Neural Plast (2012) 0.94
Modeling neurodevelopmental disorders using human neurons. Curr Opin Neurobiol (2012) 0.94
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. Neuropsychiatr Dis Treat (2014) 0.94
Discriminating Down Syndrome and Fragile X syndrome based on language ability. J Child Lang (2013) 0.92
Identification of a unique library of complex, but ordered, arrays of repetitive elements in the human genome and implication of their potential involvement in pathobiology. Exp Mol Pathol (2011) 0.92
Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord (2011) 0.91
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. Clin Biochem Rev (2011) 0.91
Resolution of spatial and temporal visual attention in infants with fragile X syndrome. Brain (2011) 0.89
Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits. PLoS One (2012) 0.89
Longitudinal profiles of adaptive behavior in fragile X syndrome. Pediatrics (2014) 0.89
FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA. RNA Biol (2014) 0.89
Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med (2011) 0.88
Early negative affect predicts anxiety, not autism, in preschool boys with fragile X syndrome. J Abnorm Child Psychol (2013) 0.88
Emotion through locomotion: gender impact. PLoS One (2013) 0.88
Macrostructural narrative language of adolescents and young adults with Down syndrome or fragile X syndrome. Am J Speech Lang Pathol (2011) 0.87
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience (2009) 0.86
Noncoding RNAs in mental retardation. Clin Genet (2009) 0.86
A quantitative homogeneous assay for fragile X mental retardation 1 protein. J Neurodev Disord (2013) 0.85
Language dysfluencies in females with the FMR1 premutation. Brain Cogn (2013) 0.85
Dynamic Object Representations in Infants with and without Fragile X Syndrome. Front Hum Neurosci (2010) 0.85
Recombinant bacterial expression and purification of human fragile X mental retardation protein isoform 1. Protein Expr Purif (2010) 0.85
Therapeutic potential of metabotropic glutamate receptor modulators. Curr Neuropharmacol (2012) 0.85
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet (2011) 0.85
Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease. Public Health Genomics (2014) 0.84
Language comprehension profiles of young adolescents with fragile X syndrome. Am J Speech Lang Pathol (2013) 0.83
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Eur J Hum Genet (2011) 0.83
Biomarkers in the Study of Families of Individuals with Developmental Disabilities. Int Rev Res Ment Retard (2009) 0.82
An investigation of narrative ability in boys with autism and fragile X syndrome. Am J Intellect Dev Disabil (2013) 0.82
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. Ann Hum Genet (2010) 0.82
Language development in school-age girls with fragile X syndrome. J Intellect Disabil Res (2012) 0.81
Social/economic costs and health-related quality of life in patients with rare diseases in Europe. Eur J Health Econ (2016) 0.81
Obtaining consent from both parents for pediatric research: what does "reasonably available" mean? Pediatrics (2012) 0.81
Direct magnitude estimation of articulation rate in boys with fragile X syndrome. J Speech Lang Hear Res (2009) 0.81
Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes. EMBO Mol Med (2015) 0.80
Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis. J Autism Dev Disord (2015) 0.80
Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). Reprod Health (2014) 0.80
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain. Biomed Res Int (2014) 0.80
Systematic review of pharmacological treatments in fragile X syndrome. BMC Neurol (2009) 0.80
Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. PLoS One (2014) 0.80
Development and validation of a multiplex-PCR assay for X-linked intellectual disability. BMC Med Genet (2013) 0.80
Early social enrichment rescues adult behavioral and brain abnormalities in a mouse model of fragile X syndrome. Neuropsychopharmacology (2015) 0.80
FRAGILE X SYNDROME: PSYCHIATRIC MANIFESTATIONS, ASSESSMENT AND EMERGING THERAPIES. Curr Psychiatry Rev (2013) 0.80
Effect of speaker gaze on word learning in fragile X syndrome: a comparison with nonsyndromic autism spectrum disorder. J Speech Lang Hear Res (2015) 0.79
Modest alterations in patterns of motor neuron dendrite morphology in the Fmr1 knockout mouse model for fragile X. Int J Dev Neurosci (2008) 0.79
Modeling neurological disorders by human induced pluripotent stem cells. J Biomed Biotechnol (2011) 0.79
Cholesterol levels in fragile X syndrome. Am J Med Genet A (2014) 0.79
Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology (2016) 0.79
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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell (1991) 12.27
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet (2000) 6.73
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The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell (1993) 4.10
Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum Mol Genet (2001) 3.91
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet (2001) 3.82
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