Concepedia

Characterization of the full fragile X syndrome mutation in fetal gametes

Henry Malter, Jane Iber, Rob Willemsen, Esther de Graaff, Jack Tarleton, Jaakko Leisti, Stephen T. Warren, Ben A. Oostra

Nature Genetics · 1997 · 196 citations · 36 references

DOI

Concepts

References

36

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

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations

, , +11

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

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Susan E. Andrew, Y. Paul Goldberg, Berry Kremer et al. · Nature Genetics · 1993 · 1.1K citations

, , +12