Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

Hagberg, 1994, Rett variants: a suggested model for inclusion criteria, Pediatr Neurol, 11, 5, 10.1016/0887-8994(94)90082-5 Zappella, 1992, The Rett girls with preserved speech, Brain Dev, 14, 98, 10.1016/S0387-7604(12)80094-5 Zappella, 1998, The preserved speech variant: a subgroup of Rett complex: a clinical report of 30 cases, J Autism Dev Disord, 228, 519, 10.1023/A:1026052128305 Amir, 1999, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein, Nat Genet, 23, 185, 10.1038/13810 Obata, 2000, Mutation analysis of the methyl-CpG binding protein gene (MECP2) in patients with Rett syndrome, J Med Genet, 37, 608, 10.1136/jmg.37.8.608 Huppke, 2000, Rett syndrome: analysis of MECP2 and clinical characterisation of 31 patients, Hum Mol Genet, 9, 1369, 10.1093/hmg/9.9.1369 De Bona, 2000, Preserved speech variant is allelic of classical Rett syndrome, Eur J Hum Genet, 8, 325, 10.1038/sj.ejhg.5200473 1988, Diagnostic criteria for Rett syndrome, Ann Neurol, 23, 425, 10.1002/ana.410230432 Nielsen JB, Henriksen KF, Ravn K, Tommerup N, Schwartz M. A patient with the preserved speech variant. An updated survey of the mutations in the Danish patient group. World Congress on Rett syndrome, 2000. Cheadle, 2000, Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location, Hum Mol Genet, 9, 1119, 10.1093/hmg/9.7.1119