Expansion to full mutation of a FMR1 intermediate allele over two generations

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

Life Sciences, Genetics, Molecular Genetics +8

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Evan E. Eichler, Jeanette J. A. Holden, Bradley W. Popovich et al. · Nature Genetics · 1994 · 482 citations

Medicine, Genetics, Molecular Genetics +7

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 421 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

Christian Dombrowski · Human Molecular Genetics · 2002 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

Robert I. Richards, K. Holman, H.M. Kozman et al. · Journal of Medical Genetics · 1991 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16