The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure

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

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Medicine, Genetics, Molecular Genetics +14

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 500 citations · Full text

Medicine, Endocrinology, Genetics +15

Association of FMR1 repeat size with ovarian dysfunction

Amy K. Sullivan, Michele Marcus, Michael P. Epstein et al. · Human Reproduction · 2004 · 498 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Characterization and expression of a cDNA encoding the human androgen receptor.

Wayne D. Tilley, Marco Marcelli, J D Wilson et al. · Proceedings of the National Academy of Sciences · 1989 · 484 citations

Life Sciences, Biochemistry, Molecular Biology +17