Concepedia

Guidelines for reporting clinical features in cases with MECP2 mutations

Alison Kerr, Yoshiko Nomura, Dawna Armstrong, Maria Anvret, Pavel V. Belichenko, Sarojini Budden, Hilary Cass, John Christodoulou, Angus Clarke, Carolyn Ellaway,

Brain and Development · 2001 · 146 citations · 15 references

DOI

Concepts

References

15

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

, , +9

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +11

MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin

Xinsheng Nan, Francisco J. Campoy, Adrian Bird · Cell · 1997 · 1.3K citations · Full text

, , +12

Diagnostic criteria for rett syndrome

Annals of Neurology · 1988 · 403 citations

, , +14

Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence

Bengt Hagberg, Ingegerd Witt‐Engerström, John M. Opitz et al. · American Journal of Medical Genetics · 1986 · 390 citations

, , +16