“Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile-X families
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02405.x/fullpdf
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2. Somatic instability of CTG repeat in myotonic dystrophy;Ashizawa;Neurology,1993
3. Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome;Chiurazzi;Am J Med Genet,1994
4. Evidence for a mechanism predisposing to intergen-erational CAG repeat instability in spinocerebellar ataxia type 1;Chung;Nature Genet,1993
5. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox;Fu;Cell,1991
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1. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders;Frontiers in Genetics;2014-07-17
2. MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature;American Journal of Medical Genetics Part A;2008
3. Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors;Journal of Genetic Counseling;2005-08
4. Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study;American Journal of Medical Genetics;2000
5. An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation;Clinical Genetics;1998-10
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