Fragile X Syndrome

• 

  Subject Areas on Research

  • A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. 
  • A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. 
  • A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development. 
  • A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • ADHD symptoms in children with FXS. 
  • Aberrant behaviors of young boys with fragile X syndrome. 
  • Abnormal behaviors of young girls with fragile X syndrome. 
  • Adaptive behavior in children with fragile X syndrome. 
  • Advances in the treatment of fragile X syndrome. 
  • Aligning animal models with clinical epilepsy: where to begin? 
  • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. 
  • Arithmetic difficulties in females with the fragile X premutation. 
  • Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample. 
  • Association of the Robin sequence with the fragile X syndrome. 
  • Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire. 
  • Behavioural equivalents of anxiety in children with fragile X syndrome: parent and teacher report. 
  • Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation. 
  • CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. 
  • Caregiver Preferences for the Treatment of Males with Fragile X Syndrome. 
  • Carrier testing in fragile X syndrome: effect on self-concept. 
  • Carrier testing in fragile X syndrome: when to tell and test. 
  • Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. 
  • Common-variant associations with fragile X syndrome. 
  • Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective. 
  • Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. 
  • Declining IQs of young males with the fragile X syndrome. 
  • Developmental implications of changing trajectories of IQ in males with fragile X syndrome. 
  • Developmental trajectories of executive functions in young males with fragile X syndrome. 
  • Developmental trajectories of young girls with fragile x syndrome. 
  • Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors. 
  • Do young boys with fragile X syndrome have macroorchidism? 
  • Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism. 
  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. 
  • Examination of factors associated with instability of the FMR1 CGG repeat. 
  • Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. 
  • Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: baseline findings from a longitudinal study. 
  • Familial transmission of the FMR1 CGG repeat. 
  • Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. 
  • Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28. 
  • Fragile X syndrome: a review of associated medical problems. 
  • Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 
  • Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. 
  • Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. 
  • Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample. 
  • Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome. 
  • Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice. 
  • Living with genetic risk: effect on adolescent self-concept. 
  • Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. 
  • Mapping nonverbal IQ in young boys with fragile X syndrome. 
  • Men with an FMR1 premutation and their health education needs. 
  • Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. 
  • Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). 
  • Mosaicism for an FMR1 gene deletion in a fragile X female. 
  • Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome. 
  • Newborn, carrier, and early childhood screening recommendations for fragile X. 
  • Ocular status of boys with fragile X syndrome: a prospective study. 
  • Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. 
  • Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. 
  • Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. 
  • Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems. 
  • Problem behavior in boys with fragile X syndrome. 
  • Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. 
  • Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. 
  • Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. 
  • Sustained attention and response inhibition in boys with fragile X syndrome: measures of continuous performance. 
  • The FMR1 premutation and reproduction. 
  • Toilet Training in Fragile X Syndrome. 
  • Trajectories and profiles of adaptive behavior in males with fragile X syndrome: multicenter studies. 
  • What is the fragile X syndrome? 
  • When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families. 
  • β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X. 
• 

  Keywords of People

  • Lachiewicz, Ave Maria, Associate Professor of Pediatrics, Pediatrics, Neurology