Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.3K citations · Full text

Genome Instability, Novel Gene, Genetic Disorder +10

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

Breakpoint Cluster Region, Fragile X Syndrome, Mendelian Disorder +11

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr, Ming‐Yi Chung, Sandro Banfi et al. · Nature Genetics · 1993 · 1.6K citations

Molecular Neuroscience, Genetics, Molecular Biology +6

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

Phenotypic Expression, Epigenetic Change, Genetics +16