Bases moleculares del síndrome de Rett, una mirada actual
Author:
Publisher
Sociedad Chilena de Pediatria
Subject
Pediatrics, Perinatology, and Child Health
Link
https://www.sciencedirect.com/science/article/pii/S0370410615001333/pdfft?isDTMRedir=true&download=true
Reference58 articles.
1. Uber ein zerebral-atrophisches síndrome bei hyperammonemie;Rett;Wien Med Wochenschr,1966
2. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett’ syndrome. Report of 35 cases;Hagberg;Ann Neurol,1983
3. FOXG1, un nuevo gen responsable de la forma congénita del Síndrome de Rett;Roche-Martínez;Rev Neurol,2011
4. Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
5. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: Case report and review of literature;Jacob;Eur J Hum Gen,2009
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas;Revista Chilena de Pediatría;2019-04-10
2. First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation;Biochemical and Biophysical Research Communications;2018-02
3. Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome;Pediatric Neurology;2017-05
4. Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay;Molecular Cytogenetics;2016-08-02
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