Concepedia

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

Isis B.T. Joosten, Debby M.E.I. Hellebrekers, Bianca T. A. de Greef, Hubert J.M. Smeets, Christine de Die‐Smulders, Catharina G. Faber, Monique M. Gerrits

European Journal of Human Genetics · 2020 · 27 citations · 38 references

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38

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

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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Helen G. Harley, S A Rundle, J. MacMillan et al. · PubMed · 1993 · 379 citations

, , +9

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Darren G. Monckton, L. Wong, Tetsuo Ashizawa et al. · Human Molecular Genetics · 1995 · 325 citations

, , +14

A general method for the detection of large CAG repeat expansions by fluorescent PCR.

Jon Warner, L H Barron, David Goudie et al. · Journal of Medical Genetics · 1996 · 294 citations · Full text

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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

Alasdair G. W. Hunter, Catherine Tsilfidis, Gabrielle Mettler et al. · Journal of Medical Genetics · 1992 · 215 citations · Full text

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