Fragile X Syndrome: Scientific Articles

Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers.

  • Alisch, R. S., Wang, T., Chopra, P., Visootsak, J., Conneely, K. N., & Warren, S. T. (2013). Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus. BMC Medical Genetics, 29, 14–18. PMID: 23356558
  • Ascano, M. Jr., Mukherjee, N., Bandaru, P., Miller, J. B., Nusbaum, J. D., Corcoran, D. L., et al. (2013). FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature, 492(7429), 382–386. PMID: 23235829
  • Berry-Kravis, E., Doll, E., Sterling, A., Kover, S. T., Schroeder, S. M., Mathur, S., et al. (2013). Development of an expressive language sampling procedure in fragile X syndrome: A pilot study. Journal of Developmental and Behavioral Pediatrics, 34(4), 245–251. PMID: 23669871
  • Hogan-Brown, A. L., Losh, M., Martin, G. E., & Mueffelmann, D. J. (2013). An investigation of narrative ability in boys with autism and fragile X syndrome. American Journal of Intellectual and Developmental Disabilities, 118(2), 77–94. PMID: 23464607
  • Inaba, Y., Herlihy, A. S., Schwartz, C. E., Skinner, C., Bui, Q. M., Cobb, J., et al. (2013). Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: A technical validation study. Genetics in Medicine, 15(4), 290–298. PMID: 23060046
  • McDuffie, A., Kover, S. T., Hagerman, R., & Abbeduto, L. (2013). Investigating word learning in fragile X syndrome: A fast-mapping study. Journal of Autism and Developmental Disorders, 43(7), 1673–1691. PMID: 23179343
  • Osterweil, E. K., Chuang, S. C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K., et al. (2013). Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron, 77(2), 243–250. PMID: 23352161
  • Sorensen, P. L., Gane, L. W., Yarborough, M., Hagerman, R. J., & Tassone, F. (2013). Newborn screening and cascade testing for FMR1 mutations. American Journal of Medical Genetics. Part A, 161A(1), 59–69. PMID: 23239591
  • Sterling, A. M., Mallick, M., Greenberg, J., Warren, S. F., & Brady, N. (2013). Language dysfluencies in females with the FMR1 premutation. Brain and Cognition, 82(1), 84–89. PMID: 23523717
  • Tassone, F., Choudhary, N. S., Tassone, F., Durbin-Johnson, B., Hansen, R., Hertz-Picciotto, I., & Pessah, I. (2013). Identification of expanded alleles of the FMR1 gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study. Journal of Autism and Developmental Disorders, 43(3), 530–539. PMID: 22767137
  • Wang, J. Y., Hessl, D., Iwahashi, C., Cheung, K., Schneider, A., Hagerman, R. J., et al. (2013). Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles. NeuroImage, 65, 288–298. PMID: 23063447
  • Akins, M. R., Leblanc, H. F., Stackpole, E. E., Chyung, E. & Fallon, J. R. (2012). Systematic mapping of fragile X granules in the mouse brain reveals a potential role for presynaptic FMRP in sensorimotor functions. Journal of Comparative Neurology, 520(16), 3687–3706. PMID: 22522693
  • Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. Journal of Clinical Investigation, 122(12), 4314–4322. PMID: 23202739
  • Baker, J. K., Seltzer, M. M., & Greenberg, J. S. (2012). Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome. Journal of Intellectual Disability Research, 56(10), 984–995. PMID: 22676314
  • Castrén, E., Elgersma, Y., Maffei, L., & Hagerman, R. (2012). Treatment of neurodevelopmental disorders in adulthood. Journal of Neuroscience, 32(41), 14074–14079. PMID: 23055475
  • Cruz-Martín, A., Crespo, M., Portera-Cailliau, C. (2012). Glutamate induces the elongation of early dendritic protrusions via mGluRs in wild type mice, but not in fragile X mice. PLoS One, 7, e32446. PMID: 22384253
  • Estigarribia, B., Martin, G. E., & Roberts, J. E. (2012). Cognitive, environmental, and linguistic predictors of syntax in fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research, 55(6), 1600–1612. PMID: 22473836
  • Greenberg, J., Seltzer, M., Baker, J., Smith, L., Warren, S. F., Brady, N., et al. (2012). Family environment and behavior problems in children, adolescents, and adults with fragile X syndrome. American Journal of Developmental Disabilities, 117(4), 331–346. PMID: 22809078
  • Henderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., et al. (2012). Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABA(B) receptors with arbaclofen. Science Translational Medicine, 4(152), 152ra128. PMID: 22993295
  • Hunter, J. E., Leslie, M., Novak, G., Hamilton, D., Shubeck, L., Charen, K., et al. (2012). Depression and anxiety symptoms among women who carry the FMR1 premutation: Impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 549–559. PMID: 22573456
  • Martin, G. E., Roberts, J. E., Helm-Estabrooks, N., Sideris, J., Vanderbilt, J., & Moskowitz, L. (2012). Perseveration in the connected speech of boys with fragile X syndrome with and without autism spectrum disorder. American Journal of Intellectual and Developmental Disabilities, 117(5), 384–399. PMID: 22998486
  • McMillian, E. L., Kamps, A. L., Lake, S. S., Svendsen, C. N., & Bhattacharyya, A. (2012). Gene expression changes in the MAPK pathway in both fragile X and Down syndrome human neural progenitor cells. American Journal of Stem Cells, 1(2), 154–162. PMID: 22822472
  • Ronesi, J. A., Collins, K. A., Hays, S. A., Tsai, N. P., Guo, W., Birnbaum, S. G., et al. (2012). Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome. Nature Neuroscience, 15, 431–440, S1. PMID: 22267161
  • Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 589–597. PMID: 22619118
  • Sterling, A., & Abbeduto, L. (2012). Language development in school-age girls with fragile X syndrome. Journal of Intellectual Disabilities Research, 56(10), 974–983. PMID: 22676254
  • Sterling, A. M., Rice, M. L., & Warren, S. F. (2012). Finiteness marking in boys with fragile X syndrome. Journal of Speech, Language, and Hearing Research, 55(6), 1704–1715. PMID: 22562829
  • Wang, T., Bray, S. M., & Warren, S. T. (2012). New perspectives on the biology of fragile X syndrome. Current Opinion in Genetics & Development, 22(3), 256–263. PMID: 22382129
  • Wang, T., Pan, Q., Lin, L., Szulwach, K. E., Song, C. X., He, C., et al. (2012). Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. Human Molecular Genetics, 21(26), 5500–5510. PMID: 23042784
  • Zhang, Y., Brown, M. R., Hyland, C., Chen, Y., Kronegold, J., Fleming, M. R., et al. (2012). Regulation of neuronal excitability by interaction of fragile X mental retardation protein with slack potassium channels. Journal of Neuroscience, 32(44), 15318–15327. PMID: 23115170
  • Auerbach, B. D., Osterweil, E. K., & Bear, M. F. (2011). Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature, 480, 63–68. PMID: 22113615

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