Fragile X syndrome: A review of clinical management
Author:
Affiliation:
1. Medical Investigation of Neurodevelopmental Disorders MIND Institute, UC Davis
2. Department of Pediatrics, UC Davis
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/5/3/5_2016.01048/_pdf
Reference149 articles.
1. 1. Lubs HA. A marker X chromosome. Am J Hum Genet. 1969; 21:231-244.
2. 2. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991; 65:905-914.
3. 3. Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science.1991; 252:1097-1102.
4. 4. de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF. Mental status of females with an FMR1 gene full mutation. Am J Hum Genet. 1996; 58:1025-1032.
5. 5. Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM. Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening. Genet Med. 2010; 12:162-173.
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