Twenty years of surveillance in Rett syndrome: what does this tell us?-Reference-Cited by-同舟云学术

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Twenty years of surveillance in Rett syndrome: what does this tell us?

Published:2014-06-19 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Anderson Alison,Wong Kingsley,Jacoby Peter,Downs Jenny,Leonard Helen

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1750-1172-9-87.pdf

Reference30 articles.

1. Hagberg B, Aicardi J, Dias K, Ramos O: 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. 10.1002/ana.410140412.

2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999, 23: 185-188. 10.1038/13810.

3. Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, de Klerk N, Leonard H: Trends in the Diagnosis of Rett Syndrome in Australia. Pediatr Res. 2011, 70: 313-319.

4. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, RettSearch Consortium: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010, 68: 944-950. 10.1002/ana.22124.

5. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H: Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008, 70: 868-875. 10.1212/01.wnl.0000304752.50773.ec.

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