Screening for FXTAS
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201318.pdf
Reference15 articles.
1. Hagerman PJ, Hagerman RJ : The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805–816.
2. Cronister A, Schreiner R, Wittenberger et al: Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet 1991; 38: 269–274.
3. Schwartz CE, Dean J, Howard-Peebles PN : Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet 1994; 51: 400–402.
4. Muray A, Webb J, Grimley S et al: Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 1998; 35: 637–640.
5. Hagerman RJ, Leehey M, Heinrichs W et al: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127–130.
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1. The Molecular Biology of Premutation Expanded Alleles;FXTAS, FXPOI, and Other Premutation Disorders;2016
2. Neuroimaging Findings in FXTAS;FXTAS, FXPOI, and Other Premutation Disorders;2016
3. Introduction to Intellectual and Developmental Disabilities;Health Care for People with Intellectual and Developmental Disabilities across the Lifespan;2016
4. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders;Frontiers in Genetics;2014-07-17
5. Olfactory dysfunction in fragile X tremor ataxia syndrome;Movement Disorders;2012-09-24
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