Published in J Am Acad Child Adolesc Psychiatry on February 01, 1994
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
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA (2002) 2.06
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet (1995) 1.91
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation. Brain Imaging Behav (2008) 1.14
Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 1.12
Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics. Autism Res (2009) 0.96
Social functioning among girls with fragile X or Turner syndrome and their sisters. J Autism Dev Disord (1998) 0.88
The cognitive neuropsychological phenotype of carriers of the FMR1 premutation. J Neurodev Disord (2014) 0.85
RAN translation-What makes it run? Brain Res (2016) 0.81
Neural phenotypes of common and rare genetic variants. Biol Psychol (2008) 0.81
Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers. Brain Disord Ther (2014) 0.81
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. JAMA Neurol (2015) 0.80
Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers. Future Neurol (2014) 0.78
Investigation of amygdala volume in men with the fragile X premutation. Brain Imaging Behav (2011) 0.77
Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology (2014) 0.77
A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation. J Neurodev Disord (2014) 0.75
Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning. Clin Neuropsychol (2016) 0.75
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
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
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
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
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA (1994) 2.01
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
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
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
Decreased cerebellar posterior vermis size in fragile X syndrome: correlation with neurocognitive performance. Neurology (1998) 1.32
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
Neurodevelopmental effects of X monosomy: a volumetric imaging study. Ann Neurol (1995) 1.31
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
Fragile X syndrome -- from genes to cognition. Dev Disabil Res Rev (2009) 1.06
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
Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet (1996) 1.02
Motor abilities of children diagnosed with fragile X syndrome with and without autism. J Intellect Disabil Res (2008) 1.01
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res (2003) 1.01
Fragile X syndrome. J Pediatr (1987) 1.00
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet (1999) 1.00
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet (2005) 0.98
Psychiatric disability in female carriers of the fragile X chromosome. Arch Gen Psychiatry (1988) 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
FMR1 premutation in females diagnosed with multiple sclerosis. J Neurol Neurosurg Psychiatry (2009) 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
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
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
Autism and the fragile X syndrome. J Dev Behav Pediatr (1983) 0.87
Discourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence. Cogn Neuropsychol (2001) 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
Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE. Am J Med Genet (1997) 0.86
No widespread psychological effect of the fragile X premutation in childhood: evidence from a preliminary controlled study. J Dev Behav Pediatr (2001) 0.86
Autism in fragile X females. Am J Med Genet (1986) 0.85
The utility of kindergarten teacher ratings for predicting low academic achievement in first grade. J Learn Disabil (2004) 0.85
Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am (1990) 0.84
Neuroanatomical and neurocognitive differences in a pair of monozygous twins discordant for strictly defined autism. Ann Neurol (1998) 0.84
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
Neuromotor functioning in children with Tourette syndrome with and without attention deficit hyperactivity disorder. J Child Neurol (1997) 0.83
Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord (1986) 0.83
Oral findings in fragile X syndrome. Am J Med Genet (1986) 0.82
Cognition and tyrosine supplementation among school-aged children with phenylketonuria. Am J Dis Child (1992) 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
Cognitive variability in the fragile X syndrome. Am J Med Genet (1987) 0.80
Problem solving limitations among cytogenetically expressing fragile X women. Am J Med Genet (1992) 0.80
Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation. Clin Genet (2014) 0.79
Mental impairment in cytogenetically positive fragile X females. Am J Med Genet (1991) 0.78
Compound heterozygous female with fragile X syndrome. Am J Med Genet (1999) 0.78
The fragile X syndrome. Dev Med Child Neurol (1992) 0.78
Fragile X syndrome and failure to thrive. Am J Dis Child (1993) 0.78
Expanding the role of the genetic counselor. Am J Med Genet (1996) 0.78
Verbal learning and memory among heterozygous fragile X females. Am J Med Genet (1992) 0.78
Molecular-clinical correlations in children and adults with fragile X syndrome. Am J Dis Child (1993) 0.77
An association between recurrent otitis media in infancy and later hyperactivity. Clin Pediatr (Phila) (1987) 0.77
Fragile X syndrome: skin elastin abnormalities. Birth Defects Orig Artic Ser (1987) 0.76
Maximizing the sensitivity of a screening questionnaire for determining Fragile X at-risk status. Am J Med Genet (1999) 0.76
A family with two female siblings with compound heterozygous FMR1 premutation alleles. Clin Genet (2013) 0.76