Fragile X Syndrome
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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.
- AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
- 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.
- Advancing artificial intelligence-assisted pre-screening for 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.
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Keywords of People
- Lachiewicz, Ave Maria, Associate Professor Emeritus of Pediatrics, Pediatrics, Neurology