Population screening for fragile-X syndrome
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference9 articles.
1. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox;Fu;Cell,1991
2. Prenatal screening for cystic fibrosis;Mennie;Lancet,1992
3. Fragile X families in a northern Swedish country;Holmgren;Am J Med Genet,1988
4. Fragile X syndrome in northern Finland: genealogic aspects;Vaisanen,1992
5. The fragile X syndrome: no evidence for any recent mutations;Smits;J Med Genet,1993
Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. 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;Genetics in Medicine;2010-03
2. Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel;The American Journal of Human Genetics;2001-08
3. A Strategy for Fragile-X Carrier Screening;Genetic Testing;1999-09
4. Efficacy of cascade testing for fragile X syndrome;Journal of Medical Screening;1999-06-01
5. The fragile X syndrome.;Journal of Medical Genetics;1998-07-01
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