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Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

Rob Willemsen, Arie Smits, Serieta Mohkamsing, H. van Beerendonk, Anton de Haan, Bert de Vries, Ans van den Ouweland, Erik A. Sistermans, H. Galjaard, B. A. Oostra

Human Genetics · 1997 · 121 citations · 14 references

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14

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

, , +8

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

, , +16

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Didier Devys, Yves Lutz, N. Rouyer et al. · Nature Genetics · 1993 · 781 citations

, , +7

Prevalence of fragile X syndrome

Gillian Turner, T. Webb, Shannon Wake et al. · American Journal of Medical Genetics · 1996 · 698 citations

, , +7