Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Brain and Development
- A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.Ann Neurol. 1983; 14: 471-479
- The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation.Am J Med Genet Suppl. 1986; 1: 383-388
- Rett syndrome – observational study of 33 families.Am J Med Genet Suppl. 1986; 1: 73-76
- High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.Am J Hum Genet. 1996; 58: 1364-1368
- Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.J Child Neurol. 1998; 13: 229-231
- Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.Am J Hum Genet. 1999; 65: 1520-1529
- A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.Am J Hum Genet. 1998; 63: 267-269
Ben Zeev B, Yaron Y, Schanen N, Wolf H, Brandt N, Ginot N, et al. Rett Syndrome: clinical manifestations in males with MECP2 mutations, germline mosaicism and implications for genetic counseling and prenatal diagnosis, submitted for publication.
- MeCP2 mutations in children with and without the phenotype of Rett syndrome.Neurology. 2001; 56: 1486-1495
- Parental origin of de novo MECP2 mutations in Rett syndrome.Eur J Hum Genet. 2001; 9: 231-236
Kondo I, Kukuda T, Morishita R, Obata K, Matsuishi T, Yamashita Y, et al. The mutation spectrum and exclusive paternal origin of the de novo methyl CpG binding protein 2 gene (MECP2) in Japanese patients with Rett syndrome. World Congress on Rett Syndrome. Karuizawa: Nagano, Japan, 2000.
- MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.Am J Hum Genet. 2001; 68: 1093-1101
- Occurrence of Rett syndrome in Boys.J Child Neurol. 2001; 16: 33-38
- Rett syndrome in a boy with a 47, XXY karyotype.Am J Hum Genet. 1999; 64: 1781-1785
- Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases.NeuroReport. 1996; 8: 187-189
- Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.Lancet. 2000; 356: 830-832
- Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.Ann Neurol. 2000; 47: 670-679
- A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.Am J Hum Genet. 2000; 67: 982-985
- Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.J Child Neurol. 1999; 14: 440-445