Concepedia

Clinical and genetic characterization of manifesting carriers of DMD mutations

Payam Soltanzadeh, Michael J. Friez, Diane M. Dunn, Andrew von Niederhausern, Olga L. Gurvich, Kathryn J. Swoboda, Jacinda B. Sampson, Alan Pestronk, Anne M. Connolly, Julaine Florence,

Neuromuscular Disorders · 2010 · 161 citations · 24 references

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References

24

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

, , +14

X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

James Amos‐Landgraf, Amy A. Cottle, Robert M. Plenge et al. · The American Journal of Human Genetics · 2006 · 355 citations · Full text

, , +12

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

Robert M. Plenge, Brian Hendrich, Charles E. Schwartz et al. · Nature Genetics · 1997 · 295 citations

, , +13

Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

Robert M. Plenge, Roger Stevenson, Herbert A. Lubs et al. · The American Journal of Human Genetics · 2002 · 262 citations · Full text

, , +14

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

EM Hoogerwaard, Egbert Bakker, PF Ippel et al. · The Lancet · 1999 · 239 citations

, , +5