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Fragile X syndrome

from Part IX - Developmental pathology

Published online by Cambridge University Press:  26 October 2017

Brian Hopkins
Affiliation:
Lancaster University
Elena Geangu
Affiliation:
Lancaster University
Sally Linkenauger
Affiliation:
Lancaster University
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Publisher: Cambridge University Press
Print publication year: 2017

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References

Further reading

Abbeduto, L., McDuffie, A., & Thurman, A. (2014). The fragile X syndrome–autism comorbidity: What do we really know? Frontiers in Genetics, 5, 110.Google Scholar
Bajaj, K., & Gross, S. (2014). Carrier screening: Past, present, and future. Journal of Clinical Medicine, 3, 10331042.Google Scholar
Hall, S.S., Jiang, H., Reis, A., & Greicius, M. (2013). Identifying large-scale brain networks in fragile X syndrome. JAMA Psychiatry, 70, 12151223.Google Scholar
Levitas, A. (1996). Neuropsychiatric aspects of fragile X syndrome. Seminars in Clinical Neuropsychiatry, 1, 154167.Google Scholar
Lightbody, A.A., & Reiss, A.L. (2009). Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies. Developmental Disabilities Research Reviews, 15, 343352.Google Scholar

References

Berry-Kravis, E., Raspa, M., Loggin-Hester, L., Bishop, E., Holiday, D., & Bailey, D.B. (2010). Seizures in fragile X syndrome: Characteristics and comorbid diagnoses. American Journal of Intellectual and Developmental Disabilities, 115, 461472.CrossRefGoogle ScholarPubMed
Cordeiro, L., Ballinger, E., Hagerman, R., & Hessl, D. (2011). Clinical assessment of DSM- IV anxiety disorders in fragile X syndrome: Prevalence and characterization. Journal of Neurodevelopmental Disorders, 3, 111.CrossRefGoogle ScholarPubMed
Gallagher, A., & Hallahan, B. (2012). Fragile X-associated disorders: A clinical overview. Journal of Neurology, 259, 401413.Google Scholar
Hagerman, R.J., & Hagerman, P. (Eds.) (2002). Fragile X syndrome: Diagnosis, treatment and research (3rd ed., pp. 319). Baltimore, MD: Johns Hopkins University Press.Google Scholar
Hagerman, R.J., Jackson, C., Amiri, K., Cronister-Silverman, A.C., O’Connor, R., & Sobesky, W. (1992). Girls with fragile X syndrome: Physical and neurocognitive status and outcome. Pediatrics, 89, 395400.CrossRefGoogle ScholarPubMed
Hallahan, B., Craig, M., Toal, F., Daly, E.M., Moore, C.J., Ambikapathy, A., … & Murphy, D.G. (2011). In vivo brain anatomy of adult males with Fragile X syndrome: An MRI study. NeuroImage, 54, 1624.CrossRefGoogle ScholarPubMed
Hatton, D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D.B., Roberts, J., & Mirrett, P. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics, 140, 18041813.CrossRefGoogle Scholar
Jacquemont, S., Hagerman, R.J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J.A., … & Hagerman, P.J. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72, 869878.Google Scholar
Jacquemont, S., Hagerman, R.J., Hagerman, P., & Leehey, M. (2007). Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: Two faces of FMR1. Lancet Neurology, 6, 4555.CrossRefGoogle ScholarPubMed
Loomis, E.W., Eid, J.S., Peluso, P., Yin, J., Hickey, L., Rank, D., … & Hagerman, P.J. (2012). Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene. Genome Research, 23, 121128.CrossRefGoogle ScholarPubMed
Lubs, H. A. (1969). A marker X chromosome. American Journal of Human Genetics, 21, 231–244.Google Scholar
McLennan, Y., Polussa, J., Tassone, F., & Hagerman, R. (2011). Fragile X syndrome. Current Genomics, 12, 216224.CrossRefGoogle ScholarPubMed
Polussa, J., Schneider, A., & Hagerman, R. (2014). Molecular advances leading to treatment implications for fragile X premutation carriers. Brain Disorders & Therapy, 3, 119.Google ScholarPubMed
Santoro, M.R., Bray, S.M., & Warren, S.T. (2012). Molecular mechanisms of fragile X syndrome: A twenty-year perspective. Annual Review of Pathology, 7, 219245.CrossRefGoogle ScholarPubMed
Tassone, F., Hagerman, P., & Hagerman, R. (2014). Fragile X premutation. Journal of Neurodevelopmental Disorders, 6, 22.CrossRefGoogle ScholarPubMed
Van der Molen, M.J., Huizinga, M., Huizenga, H.M., Ridderinkhof, K.R., Van der Molen, M.W., Hamel, B.J., … & Ramakers, G.J. (2010). Profiling fragile X syndrome in males: Strengths and weaknesses in cognitive abilities. Research in Developmental Disabilities, 31, 426439.Google Scholar

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