Mutation analysis in Rett syndrome

Genetic Testing

Volumn 5, Issue 4, 2001, Pages 321-325

  Milunsky, Jeff M ^a   Lebo, Roger V ^a   Ikuta, Tohru ^a   Maher, Thomas A ^a   Haverty, Carrie E ^a   Milunsky, Aubrey ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENOMIC DNA;

ARTICLE; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; GENOME; HUMAN; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETT SYNDROME; X CHROMOSOME DOMINANT DISORDER;

AMINO ACID SUBSTITUTION; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0035727491     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065701753617462     Document Type: Article

References (30)

1. Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
4. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
5. Rett syndrome
6. Rett syndrome: A surprising result of mutation in MECP2
7. Parental origin of de novo MECP2 mutations in Rett syndrome
8. Rett's syndrome: Characterization of respiratory patterns and sleep
9. Rett syndrome: Epidemiology and geographical variability
10. A progressive syndrome of autism dementia ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
11. MECP2 mutations in children with and without the phenotype of Rett syndrome
12. MECP2 mutation in non-fatal non-progressive encephalopathy in a male
13. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
14. Guidelines for reporting clinical features in cases with MECP2 mutations
15. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
16. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
17. A mutation in the Rett syndrome gene MECP2 causes X-linked mental retardation and progressive spasticity in males
18. MECP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
19. MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but not consistent correlations with clinical severity or with the X chromosome inactivation pattern
20. Euber eine eiggenartiges hirnatrophisches syndrome bei hyperammonamie iim Kindesalter
21. Electrocardiographic findings in Rett syndrome: An explanation for sudden death?
22. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
23. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
24. Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization
25. Two affected boys in a Rett syndrome family
26. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease
27. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
28. Angel-man syndrome phenotype associated with mutations in MECP2 a gene encoding a methyl CpG binding protein
29. Rett syndrome and the MECP2 gene
30. Angelman syndrome: Mimicking conditions and phenotypes