The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
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Title
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Authors
Keywords
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Journal
Journal of Neurodevelopmental Disorders
Volume 14, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-12-09
DOI
10.1186/s11689-022-09465-7
References
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Note: Only part of the references are listed.- FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function
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- Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome
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- FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability
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- Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations
- (2020) Andrea Schneider et al. Translational Psychiatry
- A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
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- Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment
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- (2016) Elisabetta Tabolacci et al. Genes
- Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)
- (2016) Giuseppe LaFauci et al. Genes
- Epidemiology of fragile X syndrome: A systematic review and meta-analysis
- (2014) Jessica Hunter et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome
- (2014) C. Klaiman et al. PEDIATRICS
- Clinical and molecular implications of mosaicism in FMR1 full mutations
- (2014) Dalyir Pretto et al. Frontiers in Genetics
- Outcome Measures for Clinical Trials in Fragile X Syndrome
- (2013) Elizabeth Berry-Kravis et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- A Pilot Study to Improve Venipuncture Compliance in Children and Adolescents with Autism Spectrum Disorders
- (2011) Caroline J. Davit et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome
- (2010) Feng Pan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- SIRT1 Inhibition Alleviates Gene Silencing in Fragile X Mental Retardation Syndrome
- (2008) Rea Biacsi et al. PLoS Genetics
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