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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

Feras Hantash, Dana Goos, Beryl Crossley, Ben Anderson, Ke Zhang, Weimin Sun, Charles M. Strom

Genetics in Medicine · 2010 · 106 citations · 39 references

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39

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

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Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population

Sébastien Jacquemont · JAMA · 2004 · 695 citations

, , +16

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 500 citations · Full text

, , +15

Association of FMR1 repeat size with ovarian dysfunction

Amy K. Sullivan, Michele Marcus, Michael P. Epstein et al. · Human Reproduction · 2004 · 498 citations · Full text

, , +9

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

François Rousseau, Patricia Rouillard, Marie Lou Morel et al. · PubMed · 1995 · 363 citations

, , +12