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'
- Mental retardation with osteocartilaginous anomalies.Am J Dis Child. 1966; 112: 205-213
- A new dominant gene mental retardation syndrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.Am J Dis Child. 1971; 121: 496-500
- The Coffin–Lowry syndrome: an inherited facio-digital mental retardation syndrome.J Pediatr. 1975; 86: 724-731
- Cataplexy and muscle ultrasound abnormalities in Coffin–Lowry syndrome.J Med Genet. 1998; 35: 94-98
- Drop episodes in Coffin–Lowry syndrome: exaggerated startle responses treated with clonazepam.Pediatr Neurol. 1998; 19: 148-150
- Stimulus-induced drop episodes in Coffin–Lowry syndrome.Pediatrics. 2003; 111: e197-e202
- Mutations in the kinase Rsk-2 associated with Coffin–Lowry syndrome.Nature. 1996; 384: 567-570
- Mutation analysis of the RSK2 gene in Coffin–Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.Am J Hum Genet. 1998; 63: 1631-1640
- A syndromic form of X-linked mental retardation: the Coffin–Lowry syndrome.Eur J Pediatr. 2002; 161: 179-187
- Coffin–Lowry syndrome: clinical and molecular features.J Med Genet. 2002; 39: 705-713
- Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome.Hum Mutat. 2001; 17: 103-116
- A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.Hum Genet. 1999; 104: 49-55
- Signal transduction via the MAP kinase; proceed at your own RSK.Proc Natl Acad Sci USA. 1993; 90: 5889-5892
- Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.Am J Hum Genet. 2002; 71: 168-173
- Cognitive function in Coffin–Lowry syndrome.Clin Genet. 2002; 61: 299-304
- A female with Coffin–Lowry syndrome and cataplexy.Genet Couns. 2002; 13: 405-409
- Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin–Lowry syndrome.Am J Hum Genet. 2002; 70: 1421-1433
- Startle epilepsy: a clinical study.Ann Neurol. 1984; 16: 78-81
☆The paper is based on the lecture given at the 6th annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.