Fragile X Syndrome: Scientific Background and Screening Technologies.

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders. Genes (Basel) (2016) 0.75

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka. PLoS One (2015) 0.75

Tonotopic alterations in inhibitory input to the medial nucleus of the trapezoid body in a mouse model of Fragile X syndrome. J Comp Neurol (2017) 0.75

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell (1991) 17.00

Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A (2002) 6.45

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med (1991) 4.61

Fragile X genotype characterized by an unstable region of DNA. Science (1991) 4.33

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci U S A (1997) 4.03

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

Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87

Fragile X syndrome: diagnostic and carrier testing. Genet Med (2005) 2.45

Dendritic spines elongate after stimulation of group 1 metabotropic glutamate receptors in cultured hippocampal neurons. Proc Natl Acad Sci U S A (2002) 2.23

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res (2012) 2.04

Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res (1991) 2.00

Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics (2014) 1.97

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet (2005) 1.89

A systematic review of population screening for fragile X syndrome. Genet Med (2010) 1.87

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem (2010) 1.86

Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. Genes Brain Behav (2005) 1.77

Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein. J Biol Chem (1998) 1.63

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet (2012) 1.49

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet (2004) 1.44

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33

Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn (2009) 1.28

FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet (2013) 1.19

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet (1996) 1.10

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med (2011) 1.07

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med (2013) 1.00

The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One (2011) 0.97

Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay. J Mol Diagn (2013) 0.90

Multiple heat pulses during PCR extension enabling amplification of GC-rich sequences and reducing amplification bias. Anal Chem (2012) 0.88

Screening for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5' and 3' direct triplet-primed PCRs. Clin Chem (2012) 0.86