Flora Tassone
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Flora Tassone's Degrees
- PhD Genetics University of California, Davis
- Masters Molecular Biology University of California, Davis
- Bachelors Biology University of California, Davis
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(Suggest an Edit or Addition)Flora Tassone's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
- Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. (2000) (745)
- Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. (2003) (716)
- Fragile X syndrome (2017) (670)
- Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. (2004) (597)
- Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. (2002) (492)
- Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (2006) (469)
- Autism profiles of males with fragile X syndrome. (2008) (385)
- Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. (1999) (383)
- Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X (2001) (373)
- Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. (2002) (352)
- Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. (2012) (345)
- Protein composition of the intranuclear inclusions of FXTAS. (2006) (336)
- Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. (2004) (327)
- Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients (2010) (327)
- 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. (2008) (318)
- Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines (2007) (311)
- Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation (2006) (310)
- FMRP expression as a potential prognostic indicator in fragile X syndrome. (1999) (308)
- Expanded clinical phenotype of women with the FMR1 premutation (2008) (307)
- Prenatal Vitamins, One-carbon Metabolism Gene Variants, and Risk for Autism (2011) (284)
- Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. (2012) (275)
- The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. (2003) (270)
- An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. (2007) (262)
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States (2012) (243)
- FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) (2004) (243)
- Mitochondrial dysfunction in autism. (2010) (234)
- A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. (2010) (230)
- Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation (2005) (225)
- Clinical involvement and protein expression in individuals with the FMR1 premutation. (2000) (223)
- A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome (2013) (213)
- Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. (2013) (212)
- Elevated FMR1 mRNA in premutation carriers is due to increased transcription. (2007) (199)
- Transcription of the FMR1 gene in individuals with fragile X syndrome. (2000) (191)
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene (2013) (186)
- Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. (2002) (183)
- Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome (2012) (174)
- FMR1 CGG repeat length predicts motor dysfunction in premutation carriers (2008) (173)
- Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy (2010) (171)
- Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. (2009) (169)
- An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. (2010) (169)
- A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome (2008) (165)
- Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (2004) (165)
- A review of fragile X premutation disorders: expanding the psychiatric perspective. (2009) (165)
- Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome (2017) (163)
- Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. (2006) (162)
- Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS) (2007) (161)
- Aging in individuals with the FMR1 mutation. (2004) (159)
- Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model (2006) (159)
- Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. (2008) (158)
- The fragile X premutation presenting as essential tremor. (2003) (158)
- Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. (2005) (151)
- Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. (2000) (150)
- Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. (2010) (149)
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome (2012) (148)
- High MMP‐9 activity levels in fragile X syndrome are lowered by minocycline (2013) (146)
- CGG repeat length correlates with age of onset of motor signs of the fragile X‐associated tremor/ataxia syndrome (FXTAS) (2007) (142)
- Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X (2007) (140)
- Amygdala dysfunction in men with the fragile X premutation. (2007) (137)
- The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. (2003) (132)
- Progression of tremor and ataxia in male carriers of the FMR1 premutation (2007) (131)
- Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) (130)
- Expansion of an FMR1 grey-zone allele to a full mutation in two generations. (2009) (122)
- Molecular and imaging correlates of the fragile X–associated tremor/ataxia syndrome (2006) (120)
- Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS) (2006) (120)
- The Prader-Willi Phenotype of Fragile X Syndrome (2007) (118)
- Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles (2013) (117)
- Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS (2012) (114)
- Autistic Spectrum Disorder and the Fragile X Premutation (2004) (114)
- Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder (2008) (112)
- A neuropsychological investigation of male premutation carriers of fragile X syndrome (2004) (112)
- Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation (2011) (107)
- Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder (2012) (106)
- Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. (2010) (105)
- An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. (2005) (105)
- Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice (2011) (104)
- Variability in FMRP and early development in males with fragile X syndrome. (2001) (96)
- Neuropathic features in fragile X premutation carriers (2007) (92)
- Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. (2012) (92)
- Immune‐mediated disorders among women carriers of fragile X premutation alleles (2012) (88)
- Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder (2008) (87)
- Clinical and molecular implications of mosaicism in FMR1 full mutations (2014) (86)
- A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. (2011) (86)
- Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. (2007) (83)
- The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome (2008) (82)
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission (2014) (82)
- Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome (2010) (82)
- A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1messenger RNA (2001) (81)
- Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. (1999) (81)
- Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. (2004) (81)
- High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses (2011) (79)
- Impairment of executive cognitive functioning in males with fragile X‐associated tremor/ataxia syndrome (2007) (79)
- Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats (2006) (78)
- An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). (2011) (77)
- Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons (2016) (75)
- Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene (2011) (75)
- Fragile X–associated tremor ataxia syndrome in FMR1 gray zone allele carriers (2012) (74)
- Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments (2011) (74)
- CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. (2011) (72)
- CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles (2014) (72)
- Fibroblast phenotype in male carriers of FMR1 premutation alleles. (2010) (71)
- Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre‐mutation mouse model (2012) (70)
- Abnormal nerve conduction features in fragile X premutation carriers. (2008) (69)
- The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. (2004) (69)
- Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome (2011) (69)
- Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre‐mutation: FXTAS and beyond (2005) (68)
- Plasma cytokine profiles in Fragile X subjects: Is there a role for cytokines in the pathogenesis? (2010) (68)
- Fragile X‐associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene (2012) (68)
- Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task (2011) (67)
- Fragile X Syndrome (2011) (67)
- CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. (2014) (66)
- Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. (2008) (66)
- Metformin as targeted treatment in fragile X syndrome (2018) (66)
- Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers (2009) (65)
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion (2020) (64)
- Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. (2013) (64)
- Expression of the FMR1 gene (2003) (64)
- Aging in fragile X syndrome (2010) (62)
- Global increases in both common and rare copy number load associated with autism (2013) (60)
- 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. (1999) (60)
- Rare FMR1 gene mutations causing fragile X syndrome: A review (2018) (58)
- Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome (2015) (57)
- Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome (2007) (57)
- Magnetic resonance imaging study in older fragile X premutation male carriers (2005) (56)
- A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome (2017) (55)
- Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study. (2015) (55)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
- Fragile X‐associated tremor/ataxia syndrome (FXTAS) in grey zone carriers (2013) (55)
- Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. (2005) (55)
- Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome (2014) (55)
- Age-dependent structural connectivity effects in fragile x premutation. (2012) (54)
- Sleep apnea in fragile X premutation carriers with and without FXTAS (2011) (54)
- Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? (2005) (54)
- Clinical involvement in daughters of men with fragile X‐associated tremor ataxia syndrome (2010) (54)
- Screen for expanded FMR1 alleles in patients with essential tremor (2004) (53)
- Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome (2017) (52)
- Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. (2011) (52)
- MAOA, DBH, and SLC6A4 variants in CHARGE: a case–control study of autism spectrum disorders (2011) (52)
- Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation (2008) (51)
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022) (49)
- Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles† (2011) (47)
- Paternal transmission of fragile X syndrome (2004) (46)
- Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine (2016) (46)
- Prevalence and risk of migraine headaches in adult fragile X premutation carriers (2013) (45)
- Protein synthesis levels are increased in a subset of individuals with fragile X syndrome (2018) (45)
- Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. (2014) (45)
- The development of cognitive control in children with chromosome 22q11.2 deletion syndrome (2014) (45)
- Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation (2017) (45)
- FMR1 gray‐zone alleles: Association with Parkinson's disease in women? (2011) (45)
- Enhanced Asynchronous Ca2+ Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes Expressing Fmr1 Gene Premutation Expansion* (2013) (45)
- Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome* (2015) (44)
- Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins. (2010) (43)
- Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X (2012) (43)
- A quantitative ELISA assay for the fragile x mental retardation 1 protein. (2009) (42)
- Hypertension in FMR1 premutation males with and without fragile X‐associated tremor/ataxia syndrome (FXTAS) (2012) (42)
- Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. (2006) (41)
- Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. (2015) (41)
- Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity (2016) (41)
- Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. (2014) (40)
- FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile (2014) (39)
- cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization. (1995) (38)
- Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion (2015) (38)
- Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene. (2014) (37)
- Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome (2017) (37)
- Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation (2016) (37)
- Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population (2013) (36)
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. (2019) (36)
- The multiple molecular facets of fragile X-associated tremor/ataxia syndrome (2014) (35)
- Size and methylation mosaicism in males with Fragile X syndrome (2017) (34)
- Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males With Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders (2011) (34)
- Intranuclear inclusions in a fragile X mosaic male (2013) (34)
- Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). (2006) (34)
- Enhanced Manual and Oral Motor Reaction Time in Young Adult Female Fragile X Premutation Carriers (2011) (34)
- Cognitive Impairment in a 65-year-old Male With the Fragile X-associated Tremor-Ataxia Syndrome (FXTAS) (2006) (33)
- Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome (2010) (33)
- Differential increases of specific FMR1 mRNA isoforms in premutation carriers (2014) (33)
- Screen for excess FMR1 premutation alleles among males with parkinsonism. (2007) (33)
- Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome (2011) (32)
- Fragile X Premutation (2014) (32)
- Tremor/Ataxia syndrome in fragile X carrier males (2002) (32)
- A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS (2008) (31)
- Early Acceleration of Head Circumference in Children with Fragile X Syndrome and Autism (2007) (31)
- FMR1 premutation in females diagnosed with multiple sclerosis (2009) (31)
- Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome (2014) (30)
- Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation. (2016) (30)
- Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome (2017) (30)
- Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome (2020) (30)
- Advanced technologies for the molecular diagnosis of fragile X syndrome (2015) (29)
- A Novel FMR 1 PCR Method for the Routine Detection of Low-Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome (2010) (29)
- A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS (2011) (28)
- The fragile X-associated tremor ataxia syndrome. (2012) (28)
- Male Carriers of the FMR1 Premutation Show Altered Hippocampal-Prefrontal Function During Memory Encoding (2012) (27)
- Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding (2016) (27)
- Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (2013) (26)
- Metformin treatment in young children with fragile X syndrome (2019) (26)
- Screening for the presence of FMR1 premutation alleles in women with parkinsonism. (2009) (26)
- Phenotypes of hypofrontality in older female fragile X premutation carriers (2013) (26)
- Translation of the FMR1 mRNA is not influenced by AGG interruptions (2009) (26)
- A search for genes from the dark band regions of human chromosome 21. (1995) (25)
- Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms (2009) (25)
- Broad clinical involvement in a family affected by the fragile X premutation. (2009) (25)
- Genomic studies in fragile X premutation carriers (2014) (25)
- High functioning male with fragile X syndrome and fragile X‐associated tremor/ataxia syndrome (2015) (24)
- Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (2010) (24)
- The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery (2014) (24)
- Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR. (2015) (24)
- Warburg effect linked to cognitive‐executive deficits in FMR1 premutation (2016) (24)
- Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism (2021) (24)
- FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. (2010) (24)
- Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses (2014) (23)
- Altered expression of the FMR1 splicing variants landscape in premutation carriers. (2017) (23)
- Newborn screening and cascade testing for FMR1 mutations (2013) (23)
- Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study (2017) (23)
- De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity (2012) (23)
- A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes (2007) (23)
- Methadone use in a male with the FMRI premutation and FXTAS (2015) (23)
- Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study (2018) (23)
- Immune mediated disorders in women with a fragile X expansion and FXTAS (2015) (23)
- Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series (2016) (22)
- Tissue‐specific methylation differences in a fragile X premutation carrier (1999) (22)
- Map location, genomic organization and expression patterns of the human RED1 RNA editase (1997) (22)
- GRAND ROUNDS: An Atypical Progressive Dementia in a Male Carrier of the Fragile X Premutation: An Example of Fragile X-Associated Tremor/Ataxia Syndrome (2005) (22)
- Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range (2018) (21)
- Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome (2016) (21)
- Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene (2008) (21)
- Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR (2014) (21)
- The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles (2011) (21)
- Microglial cell activation and senescence are characteristic of the pathology FXTAS (2018) (20)
- Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. (2020) (20)
- Analysis of chromosome 21 yeast artificial chromosome (YAC) clones. (1992) (20)
- FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. (2019) (20)
- Phenobarbital use and neurological problems in FMR1 premutation carriers. (2016) (19)
- New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease (2013) (19)
- Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers (2016) (19)
- Distribution of AGG interruption patterns within nine world populations. (2014) (19)
- Developmental profiles of infants with an FMR1 premutation (2016) (19)
- Analysis of pufferfish homologues of the AT-rich human APP gene. (1998) (19)
- Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed (2012) (18)
- Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females (2018) (18)
- Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations (2020) (18)
- Genetic cluster of fragile X syndrome in a Colombian district (2018) (18)
- Neural progenitor cells from an adult patient with fragile X syndrome (2005) (17)
- A Review of Fragile X Premutation Disorders (2009) (17)
- Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 (2017) (17)
- Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome (2012) (17)
- Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases (2019) (17)
- A Randomized Controlled Trial of Sertraline in Young Children With Autism Spectrum Disorder (2019) (17)
- Newborn screening for fragile X syndrome. (2008) (16)
- Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model (2019) (16)
- Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. (1998) (16)
- FXTAS, FXPOI, and Other Premutation Disorders (2016) (16)
- Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome (2009) (16)
- Two boys with fragile x syndrome and hepatic tumors. (2008) (16)
- Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study (2013) (15)
- A girl with fragile X premutation from sperm donation (2008) (15)
- Molecular and cytogenetic characterization of a Chinese hamster/human hybrid cell line containing a der (21)t(Ypter-->cenY::cen21-->21qter) chromosome. (1993) (15)
- Age‐ and CGG repeat‐related slowing of manual movement in fragile X carriers: A prodrome of fragile X‐associated tremor ataxia syndrome? (2018) (15)
- Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome (2016) (15)
- Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation (2011) (15)
- Finding FMR1 mosaicism in Fragile X syndrome (2016) (15)
- Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study (2016) (15)
- Compound heterozygous female with fragile X syndrome. (1999) (14)
- Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? (2018) (14)
- Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins (2018) (14)
- Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions (2013) (14)
- A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. (2017) (13)
- Gene expression relevant to Down syndrome: problems and approaches. (1999) (13)
- Altered neural activity of magnitude estimation processing in adults with the fragile X premutation. (2013) (13)
- Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement (2021) (13)
- Clinical and molecular correlates in fragile X premutation females (2017) (13)
- Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes. (1999) (13)
- Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene. (2009) (13)
- Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. (2005) (13)
- Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening. (2012) (12)
- Altered neural activity in the ‘when’ pathway during temporal processing in fragile X premutation carriers (2014) (12)
- Parkinsonism and cognitive decline in a fragile X mosaic male (2010) (12)
- Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion. (2017) (12)
- Cerebral Microbleeds in Fragile X–Associated Tremor/Ataxia Syndrome (2021) (12)
- Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening (2015) (12)
- Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia (2018) (12)
- Protein synthesis levels are increased in a subset of individuals with fragile X syndrome (2018) (12)
- Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety (2017) (12)
- Alcohol use dependence in fragile X syndrome. (2016) (11)
- Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation (2019) (11)
- Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene (2020) (11)
- Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome (2014) (11)
- Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X–Associated Tremor/Ataxia Syndrome (2020) (11)
- Psychiatric features in high-functioning adult brothers with fragile x spectrum disorders. (2013) (11)
- Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan (2015) (10)
- Aging in Fragile X Premutation Carriers (2016) (10)
- Parent-delivered touchscreen intervention for children with fragile X syndrome. (2014) (9)
- Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome (2003) (9)
- Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. (2014) (9)
- Women with Fragile X–associated Tremor/Ataxia Syndrome (2020) (9)
- Family and population studies of SAHH and ADA polymorphisms. A possible pitfall in the ascertainment of SAHH electrophoretic phenotypes (1987) (9)
- Covariate Adjusted Correlation Analysis with Application to FMR1 Premutation Female Carrier Data (2009) (9)
- Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome. (2016) (9)
- Reduced telomere length in individuals with FMR1 premutations and full mutations (2012) (9)
- Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS) (2020) (8)
- Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome (2020) (8)
- Autism Profiles of Young Males with Fragile X Syndrome (2005) (8)
- The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS. (2020) (8)
- Association between macroorchidism and intelligence in FMR1 premutation carriers (2014) (8)
- A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male (2012) (7)
- Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community (2020) (7)
- Investigation of amygdala volume in men with the fragile X premutation (2011) (7)
- The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers (2018) (7)
- Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles (2019) (7)
- FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS) (2020) (7)
- Prepubertal Metformin Treatment in Fragile X Syndrome Alleviated Macroorchidism: A Case Study (2019) (6)
- Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia (2018) (6)
- Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size? (2017) (6)
- Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22 q 11 . 2 deletion syndrome (2009) (6)
- Fragile X- associated Neuropsychiatric Disorders: A Case Report. (2019) (6)
- High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique. (2009) (6)
- The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity (2019) (6)
- Fentanyl overdose in a female with the FMR1 premutation and FXTAS. (2018) (6)
- Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (2021) (6)
- Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome (2021) (5)
- Axonal neuropathy in female carriers of the fragile X premutation with fragile x–associated tremor ataxia syndrome (2015) (5)
- Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. (2020) (5)
- Expression of expandedFMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS. (2021) (5)
- A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) (2022) (5)
- Reduced EAAT1 and mGluR5 expression in the cerebellum of FMR1 premutation carriers with FXTAS (2014) (5)
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). (2019) (5)
- Potential gene sequence isolation and regional mapping in human chromosome 21. (2005) (5)
- Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways (2021) (5)
- Fragile X Syndrome (2005) (5)
- Testing the FMR 1 Promoter for Mosaicism in DNA Methylation among CpG Sites , Strands , and Cells in FMR 1-Expressing Males with Fragile X Syndrome (2016) (5)
- Dinucleotide repeat polymorphism at the D21S65 locus. (1992) (4)
- Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases (2017) (4)
- Severe Language Impairment in Fragile X Syndrome: Clinical Correlates and Treatment Approaches (1998) (4)
- Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report (2017) (4)
- Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease (2020) (4)
- Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers (2018) (4)
- EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome (2021) (3)
- Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways (2020) (3)
- Role of p 53 , Mitochondrial DNA Deletions , and Paternal Age in Autism : A Case-Control Study (2016) (3)
- Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri (2022) (3)
- Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation (2022) (3)
- Inequities in diagnosis of Fragile X syndrome in Colombia. (2021) (3)
- Identification of a male with fragile X syndrome through newborn screening. (2015) (3)
- FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability (2021) (3)
- Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. (1999) (3)
- Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment (2023) (3)
- A family with two female siblings with compound heterozygous FMR1 premutation alleles (2014) (3)
- Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome (2022) (2)
- Sequencing the Unsequenceable: Expanded CGG Repeats in the Human FMR1 Gene (2013) (2)
- Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls (2015) (2)
- Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome (2022) (2)
- Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders (2021) (2)
- Decreased DGCR 8 Expression and miRNA Dysregulation in Individuals with 22 q 11 . 2 Deletion Syndrome (2014) (2)
- Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers (2021) (2)
- Intranuclear neuronal inclusions in two female carriers of the fragile X premutations (2003) (2)
- Episignatures stratifying ADNP syndrome show modest correlation with phenotype (2020) (2)
- High density transcriptional mapping of chromosome 21 by hybridization selection (1994) (2)
- Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis. (2016) (2)
- Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation (2022) (2)
- Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome (2022) (2)
- Contraction of a Maternal Fragile X Mental Retardation 1 Premutation Allele (2015) (2)
- 69 THE PRADER-WILLI CLINICAL SUBPHENOTYPE OF FRAGILE X SYNDROME. (2006) (2)
- Developmental aspects of FXAND in a man with the FMR1 premutation (2020) (2)
- Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation (2020) (2)
- ‘Essential Tremor’ Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers (2021) (2)
- Genotype/Phenotype Relationships in FXTAS (2010) (2)
- Mosaicism in Fragile X syndrome: A family case series (2021) (2)
- Genomic studies in fragile X premutation carriers (2014) (1)
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission (2014) (1)
- Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. (1994) (1)
- Methylation analysis in newborn screening for fragile X syndrome--reply. (2014) (1)
- Robust Screening and Cascade Testing for Fragile X Expansions in a Large Multigenerational Family Identify Many Affected Individuals: An Experience in the Remote Area of Indonesia (2020) (1)
- Abnormal N 400 word repetition effects in fragile X-associated tremor / ataxia syndrome (2010) (1)
- Towards a Transcriptional Map of Human Chromosome 21 (1994) (1)
- Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome (2022) (1)
- Identifying patterns of copy number variants in case-control studies of human genetic disorders (2009) (1)
- A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation (2014) (1)
- Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder (2020) (1)
- Highly polymorphic repeat marker within the β-amyloid precursor protein gene (2004) (1)
- HOPES, FEARS AND BELIEFS ABOUT CLINICAL TRIALS FOR CHILDREN WITH ANGELMAN SYNDROME, 22Q11.2 DELETION SYNDROME AND OTHER RARE GENETIC DISORDERS (2018) (1)
- The effect of premutation CGG trinucleotide repeat expansion, and %FMRP(+) lymphocytes reduction, on brain anatomy (2003) (1)
- The Role of the FMR1 Gene in Infant Contrast Sensitivity (2010) (1)
- The multiple molecular facets of fragile X-associated tremor/ataxia syndrome (2014) (1)
- Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS) (2020) (1)
- Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed (2012) (1)
- The effect of premutation CGG trinucleotide repeat expansion, and expression of FMR-1 protein, on brain anatomy (2002) (0)
- Response to letter: “No evidence of paternal transmission of fragile X syndrome” by Doris and Peter Steinbach (2005) (0)
- D21S170 maps to terminal 21q22.3. (1990) (0)
- Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers (2022) (0)
- The molecular biology of FXTAS (2010) (0)
- A Randomized Double-Blind, Placebo-Controlled Trial ofMinocycline in Children and Adolescents with Fragile XSyndrome (2013) (0)
- Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series (2016) (0)
- PNAS Plus Significance Statements (2016) (0)
- Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome (2020) (0)
- Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers (2021) (0)
- Supplementary Material for: Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome (2016) (0)
- Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study (2018) (0)
- Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS (2021) (0)
- Title Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome (2015) (0)
- Fragile X Syndrome in a Colombian Family (2018) (0)
- BMC Technical advance Neural progenitor cells from an adult patient with fragile X syndrome (2005) (0)
- Neurology Education on FXTAS across the World: From Training Foreign Specialists in the US to Opening a Specialty Clinic in China (P06.031) (2012) (0)
- Title A randomized double-blind , placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome (2017) (0)
- Fear-Speci fi c Amygdala Function in Children and Adolescents on the Fragile X Spectrum : A Dosage Response of the FMR 1 Gene (2012) (0)
- Aging in Fragile X Premutation Carriers (2016) (0)
- A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation (2014) (0)
- Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome (2022) (0)
- of the mRNA is not influenced by AGG interruptions. (2009) (0)
- Autism phenotype in fragile X premutation males is not associated with FMR1 expression: a preliminary evaluation (2018) (0)
- De Novo Large Deletion Leading to Fragile X Syndrome (2022) (0)
- A H-1 magnetic resonance spectroscopy study of males with premutation expansion of CGG trinucleoticle repeats (2004) (0)
- Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome (2022) (0)
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States (2012) (0)
- Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders (2017) (0)
- Prosaccade and Antisaccade Behavior in Fragile X‐Associated Tremor/Ataxia Syndrome Progression (2022) (0)
- Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome (2017) (0)
- Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome (2022) (0)
- A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome (2017) (0)
- Fragile X Premutation (2014) (0)
- FMRP expression and clinical correlates in mosaic males, males with a partially methylated full mutation, and females with a full mutation (2000) (0)
- Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism (2018) (0)
- Developmental profiles of infants with an FMR1 premutation (2016) (0)
- The Molecular Biology of Premutation Expanded Alleles (2016) (0)
- Molecular Correlates of Fragile X Syndrome and FXTAS (2006) (0)
- Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
- Intranuclear inclusions in a fragile X mosaic male (2013) (0)
- Blood spots screening for identification of Fragile X Syndrome among intellectual disability students in Flores Island, INDONESIA (2013) (0)
- Genetic cluster of fragile X syndrome in a Colombian district (2018) (0)
- S9-4 Cognitive ERPs in Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and early Alzheimer's Disease (2010) (0)
- Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome (2020) (0)
- Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety (2017) (0)
- Cognitive Deficits and Associated ERP N400 Abnormalities in With Parkinsonism. (2018) (0)
- The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery (2015) (0)
- Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome (2014) (0)
- Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder (2011) (0)
- Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene (2023) (0)
- Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice (2022) (0)
- Clinical implications of somatic allele expansion in female FMR1 premutation carriers (2023) (0)
- Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome (2001) (0)
- Title The development of cognitive control in children with chromosome 22 q 11 . 2 deletion syndrome (2014) (0)
- Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study (2012) (0)
- A Role for MSH2 in the CGG Repeat Expansion (2014) (0)
- Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to SynapticDeficits in Fragile X Syndrome (2015) (0)
- Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X Acog—american Academy of Obstetrics and Gynecology Cf—cystic Fibrosis Fmr1—fragile X Mental Retardation 1 Fmrp—fragile X Mental Retardation Protei (2012) (0)
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