Concepedia

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome

Takuma Ishii, Yoshio Makita, Atsushi Ogawa, Satoshi Amamiya, Michio Yamamoto, Akie Miyamoto, Junichi Oki

Brain and Development · 2001 · 60 citations · 7 references

DOI

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References

7

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz et al. · Annals of Neurology · 2000 · 345 citations

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

Jeremy P. Cheadle · Human Molecular Genetics · 2000 · 286 citations · Full text

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MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi et al. · The American Journal of Human Genetics · 2001 · 283 citations · Full text

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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Takeo Kubota, Shigeaki Nonoyama, Hidefumi Tonoki et al. · Human Genetics · 1999 · 225 citations

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