EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2014185.pdf
Reference110 articles.
1. Hill MK, Archibald AD, Cohen J, Metcalfe SA : A systematic review of population screening for fragile X syndrome. Genet Med 2010; 12: 411–412.
2. Sherman SL : Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000; 97: 189–194.
3. Sullivan AK, Marcus M, Epstein MP et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005; 20: 402–412.
4. Conway GS, Payne NN, Webb J, Murray A, Jacobs PA : Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998; 13: 1184–1187.
5. Murray A, Webb J, Grimley S, Conway G, Jacobs P : Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 1998; 35: 637–640.
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