Published in JAMA on February 16, 1994
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FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. J Med Genet (1996) 1.54
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Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
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Physiological correlates of social avoidance behavior in children and adolescents with fragile x syndrome. J Am Acad Child Adolesc Psychiatry (2009) 1.07
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA (2007) 1.04
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Improving IQ measurement in intellectual disabilities using true deviation from population norms. J Neurodev Disord (2014) 0.87
Anticipation phenomenon in familial adenomatous polyposis:an analysis of its origin. World J Gastroenterol (2000) 0.80
Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome. Clin Epigenetics (2016) 0.80
Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet (2006) 0.80
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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain (2002) 4.05
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain (2005) 3.99
The loss of tumor-initiating ability in Agrobacterium tumefaciens by incubation at high temperature. Experientia (1971) 3.71
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet (2000) 2.46
Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet (1991) 2.29
Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet (1999) 2.26
Transjugular intrahepatic portosystemic shunt improves oxygenation in hepatopulmonary syndrome. Gastroenterology (1995) 2.26
Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet (2000) 2.24
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet (1999) 2.23
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology (2005) 2.04
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet (2000) 1.85
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology (2007) 1.77
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet (2004) 1.77
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet (1994) 1.68
Rapid identification and differentiation of Bartonella species using a single-step PCR assay. J Clin Microbiol (2000) 1.68
Aging in individuals with the FMR1 mutation. Am J Ment Retard (2004) 1.68
Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard (1998) 1.58
Sensory modulation dysfunction in children with attention-deficit-hyperactivity disorder. Dev Med Child Neurol (2001) 1.49
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet (2001) 1.44
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44
Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Acad Child Adolesc Psychiatry (1994) 1.42
Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia (1999) 1.42
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav (2012) 1.41
An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet (1986) 1.38
Sensory-modulation disruption, electrodermal responses, and functional behaviors. Dev Med Child Neurol (1999) 1.37
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology (2008) 1.31
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics (1996) 1.28
Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet (1996) 1.24
The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr (1993) 1.23
Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology (2001) 1.20
Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females. Am J Med Genet (1986) 1.17
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Neuropsychological dysfunction among affected heterozygous fragile X females. Am J Med Genet (1990) 1.11
Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. Am J Med Genet (2000) 1.08
Mitral valve prolapse and aortic dilatation in the fragile X syndrome. Am J Med Genet (1984) 1.08
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A (2003) 1.06
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Cognitive profiles of boys with the fragile X syndrome. Am J Med Genet (1988) 1.06
Recurrent otitis media in the fragile X syndrome. Am J Dis Child (1987) 1.05
Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet (2010) 1.04
Contrast detection in infants with fragile X syndrome. Vision Res (2008) 1.04
Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome. Am J Med Genet (1986) 1.03
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res (2003) 1.01
Motor abilities of children diagnosed with fragile X syndrome with and without autism. J Intellect Disabil Res (2008) 1.01
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Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet (1999) 1.00
Sample richness and genetic diversity as drivers of chimera formation in nSSU metagenetic analyses. Nucleic Acids Res (2012) 0.98
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet (2005) 0.98
The proto-oncogene HLF and the related basic leucine zipper protein TEF display highly similar DNA-binding and transcriptional regulatory properties. Blood (1996) 0.98
Psychiatric disability in female carriers of the fragile X chromosome. Arch Gen Psychiatry (1988) 0.98
Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet (1994) 0.98
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet (2012) 0.97
Consideration of connective tissue dysfunction in the fragile X syndrome. Am J Med Genet (1984) 0.97
Auditory evoked magnetic fields in adults with fragile X syndrome. Neuroreport (2001) 0.96
Symptoms of schizotypal personality disorder in fragile X women. J Am Acad Child Adolesc Psychiatry (1994) 0.95
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Genet A (2003) 0.94
A controlled study of longitudinal IQ changes in females and males with fragile X syndrome. Am J Med Genet (1996) 0.94
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. Neuroepidemiology (2006) 0.93
Molecular/clinical correlations in females with fragile X. Am J Med Genet (1996) 0.93
Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. Am J Med Genet (1999) 0.93
FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry (2009) 0.93
Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry (1995) 0.93
Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. Am J Med Genet (1995) 0.92
Assessment approaches for older people receiving social care: content and coverage. Int J Geriatr Psychiatry (1999) 0.91
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Systems of care for frail older persons. InterRAI. Trans Am Clin Climatol Assoc (1999) 0.90
A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Dis Child (1993) 0.90
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. Clin Genet (2014) 0.90
Emotional and neurocognitive deficits in fragile X. Am J Med Genet (1994) 0.90
Standards for selected anthropometric measurements in males with the fragile X syndrome. Pediatrics (1992) 0.89
Aortic root dilatation and mitral valve prolapse in the fragile X syndrome. Am J Med Genet (1986) 0.88
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective. Am J Med Genet A (2003) 0.88
Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors. Am J Med Genet (1995) 0.88
Discourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence. Cogn Neuropsychol (2001) 0.87
Autism and the fragile X syndrome. J Dev Behav Pediatr (1983) 0.87
Oral folic acid versus placebo in the treatment of males with the fragile X syndrome. Am J Med Genet (1986) 0.87
Cognitive profiles of the carrier fragile X woman. Am J Med Genet (1991) 0.86
Autism in fragile X females. Am J Med Genet (1986) 0.85
Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am (1990) 0.84
Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord (1986) 0.83
Specific frontal lobe deficits among women with the fragile X gene. J Am Acad Child Adolesc Psychiatry (1992) 0.83
The fragile X syndrome: history, diagnosis, and treatment. J Dev Behav Pediatr (1983) 0.83
Oral findings in fragile X syndrome. Am J Med Genet (1986) 0.82
Social cognition skills among females with fragile X. J Autism Dev Disord (1994) 0.81
Developmental implications of changing trajectories of IQ in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry (1990) 0.81
Transforming growth factor alpha distribution in rectal crypts as a biomarker of decreased colon cancer risk in patients consuming cellulose. Cancer Epidemiol Biomarkers Prev (1997) 0.80
Problem solving limitations among cytogenetically expressing fragile X women. Am J Med Genet (1992) 0.80
Cognitive variability in the fragile X syndrome. Am J Med Genet (1987) 0.80
Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation. Clin Genet (2014) 0.79
Compound heterozygous female with fragile X syndrome. Am J Med Genet (1999) 0.78