Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Brain and Development - Tập 31 - Trang 208-216 - 2009
A. Renieri1, F. Mari1, M.A. Mencarelli1, E. Scala1, F. Ariani1, I. Longo1, I. Meloni1, G. Cevenini2, G. Pini3, G. Hayek4, M. Zappella3,4
1Medical Genetics, Molecular Biology Department, University of Siena, Viale Bracci, 2, Siena 53100, Italy
2Department of Surgery and Bioengineering, University of Siena, Siena, Italy
3Child Neuropsychiatry, Versilia Hospital, Viareggio, Italy
4Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy

Tài liệu tham khảo

Trevathan, 1988, Diagnostic criteria for Rett syndrome, Ann Neurol, 23, 425, 10.1002/ana.410230432

Skjeldal, 1995, Rett syndrome-distribution of phenotypes with special attention to the preserved speech variant, Neuropediatrics, 26, 87, 10.1055/s-2007-979732

Zappella, 1998, The preserved speech variant: a subgroup of the Rett Complex: a clinical report of 30 cases, J Autism Dev Disord, 28, 519, 10.1023/A:1026052128305

De Bona, 2000, Preserved speech variant is allelic of classic Rett syndrome, Eur J Hum Genet, 8, 325, 10.1038/sj.ejhg.5200473

Zappella, 2001, Preserved speech variants of the Rett syndrome: molecular and clinical analysis, Am J Med Genet, 104, 14, 10.1002/ajmg.10005

Zappella, 2003, Study of MECP2 gene in Rett syndrome variants and autistic girls, Am J Med Genet B Neuropsychiatr Genet, 119B, 102, 10.1002/ajmg.b.10070

Oexle, 2005, Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion, Eur J Pediatr, 164, 154, 10.1007/s00431-004-1583-x

Sampieri, 2007, Italian Rett database and biobank, Hum Mutat, 28, 329, 10.1002/humu.20453

Kerr, 2001, Guidelines for reporting clinical features in cases with MECP2 mutations, Brain Dev, 23, 208, 10.1016/S0387-7604(01)00193-0

Huppke, 2002, Influence of mutation type and location on phenotype in 123 patients with Rett syndrome, Neuropediatrics, 33, 105, 10.1055/s-2002-32373

Ronnett, 2003, Olfactory biopsies demonstrate a defect in neuronal development in Rett’s syndrome, Ann Neurol, 54, 206, 10.1002/ana.10633

Scala, 2007, MECP2 deletions and genotype–phenotype correlation in Rett syndrome, Am J Med Genet A, 10.1002/ajmg.a.32002

Hagberg, 1993

Kerr, 2001

Kerr, 2006, People with MECP2 mutation-positive Rett disorder who converse, J Intellect Disabil Res, 50, 386, 10.1111/j.1365-2788.2005.00786.x

Philippe, 2006, Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update, Eur J Med Genet, 49, 9, 10.1016/j.ejmg.2005.04.003

Leonard, 2003, Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?, J Med Genet, 40, e52, 10.1136/jmg.40.5.e52

Smeets, 2005, Rett syndrome in females with CTS hot spot deletions: a disorder profile, Am J Med Genet A, 132, 117, 10.1002/ajmg.a.30410

Mari, 2004, Germiline mosaicism in Rett syndrome identified by prenatal diagnosis, Clin Genet, 67, 258, 10.1111/j.1399-0004.2005.00397.x

Yaron, 2002, MECP2 mutation in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome, Hum Mutat, 20, 323, 10.1002/humu.9069

Gill, 2003, Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome, J Med Genet, 40, 380, 10.1136/jmg.40.5.380