Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

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

Life Sciences, Genetics, Molecular Genetics +9

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Functional disomy resulting from duplications of distal Xq in four unrelated patients

Katherine Lachlan, Morag N. Collinson, Richard Sandford et al. · Human Genetics · 2004 · 45 citations

Life Sciences, Genetics, Molecular Genetics +13

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Irene Madrigal, Laia Rodríguez‐Revenga, Célia Bádenas et al. · Genetics in Medicine · 2007 · 35 citations · Full text

Medicine, Molecular Genetics, Early Detection +6