Concepedia

Screening with the FMR1 protein test among mentally retarded males

Bert B.A. de Vries, Serieta Mohkamsing, Ans M.W. van den Ouweland, Dicky Halley, Martinus F. Niermeijer, Ben A. Oostra, Rob Willemsen

Human Genetics · 1998 · 43 citations · 11 references

DOI

Concepts

References

11

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

, , +12

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

Absence of expression of the FMR-1 gene in fragile X syndrome

Maura Pieretti, Ying‐Hui Fu, Stephen T. Warren et al. · Cell · 1991 · 1.5K citations

, , +11

Fragile X Genotype Characterized by an Unstable Region of DNA

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