Concepedia

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Kristin G. Monaghan, Elaine Lyon, Elaine Spector

Genetics in Medicine · 2013 · 166 citations · 75 references

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Concepts

References

75

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

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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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Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu, Melanie Pritchard, Eric J. Kremer et al. · Science · 1991 · 799 citations

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Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Flora Tassone, Randi J. Hagerman, Annette K. Taylor et al. · The American Journal of Human Genetics · 2000 · 771 citations · Full text

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Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Sébastien Jacquemont, Randi J. Hagerman, Maureen A. Leehey et al. · The American Journal of Human Genetics · 2003 · 765 citations · Full text

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