Concepedia

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm,

Nature Genetics · 2012 · 664 citations · 42 references

DOI

Concepts

References

42

A new mathematical model for relative quantification in real-time RT-PCR

Michael W. Pfaffl · Nucleic Acids Research · 2001 · 34.9K citations · Full text

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A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 783 citations · Full text

, , +17

Protocol for the fast chromatin immunoprecipitation (ChIP) method

Joel D. Nelson, Oleg Denisenko, Karol Bomsztyk · Nature Protocols · 2006 · 782 citations

, , +5

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 685 citations

, , +16

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Judith C. T. van Deutekom, Cisca Wljmenga, Esther A.E.Van Tlenhoven et al. · Human Molecular Genetics · 1993 · 533 citations

, , +17