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Year Number of Results
1984 1
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2007 29
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1,034 results

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Page 1
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE. Banerjee A, et al. Brain. 2019 Feb 1;142(2):239-248. doi: 10.1093/brain/awy323. Brain. 2019. PMID: 30649225 Free PMC article. Review.
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding …
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on …
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.
Vidal S, Xiol C, Pascual-Alonso A, O'Callaghan M, Pineda M, Armstrong J. Vidal S, et al. Int J Mol Sci. 2019 Aug 12;20(16):3925. doi: 10.3390/ijms20163925. Int J Mol Sci. 2019. PMID: 31409060 Free PMC article. Review.
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females. ...This review also underlines t …
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitiv …
Global prevalence of Rett syndrome: systematic review and meta-analysis.
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S. Petriti U, et al. Syst Rev. 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. Syst Rev. 2023. PMID: 36642718 Free PMC article. Review.
BACKGROUND: Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for t …
BACKGROUND: Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with …
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, A …
Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most …
Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.
Pejhan S, Rastegar M. Pejhan S, et al. Biomolecules. 2021 Jan 8;11(1):75. doi: 10.3390/biom11010075. Biomolecules. 2021. PMID: 33429932 Free PMC article. Review.
Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with patients displaying neurological regression and autism spectrum features. ...
Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with patients displaying neurological regression …
The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.
Mount RH, Charman T, Hastings RP, Reilly S, Cass H. Mount RH, et al. J Child Psychol Psychiatry. 2002 Nov;43(8):1099-110. doi: 10.1111/1469-7610.00236. J Child Psychol Psychiatry. 2002. PMID: 12455930
BACKGROUND: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereoty …
BACKGROUND: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal f …
Imaging the binding of MECP2 to DNA.
West AE. West AE. Genes Dev. 2023 Oct 1;37(19-20):863-864. doi: 10.1101/gad.351285.123. Epub 2023 Nov 1. Genes Dev. 2023. PMID: 37914350 Free PMC article. Review.
Mutations in the methyl-DNA binding domain of MECP2 cause Rett syndrome; however, distinct mutations are associated with different severity of the disease. ...These data demonstrate how single-molecule tracking can advance understanding of the molecular mechanisms c …
Mutations in the methyl-DNA binding domain of MECP2 cause Rett syndrome; however, distinct mutations are associated with diffe …
Rett syndrome.
Ben Zeev Ghidoni B. Ben Zeev Ghidoni B. Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):723-43. doi: 10.1016/j.chc.2007.03.004. Child Adolesc Psychiatr Clin N Am. 2007. PMID: 17562589 Review.
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. ...
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation i …
Rett Syndrome: Crossing the Threshold to Clinical Translation.
Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, Tarquinio DC. Katz DM, et al. Trends Neurosci. 2016 Feb;39(2):100-113. doi: 10.1016/j.tins.2015.12.008. Trends Neurosci. 2016. PMID: 26830113 Free PMC article. Review.
Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. ...
Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent ye …
Parental age effects and Rett syndrome.
Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Fang X, et al. Am J Med Genet A. 2024 Feb;194(2):160-173. doi: 10.1002/ajmg.a.63396. Epub 2023 Sep 28. Am J Med Genet A. 2024. PMID: 37768187
Rett syndrome (RTT) is a progressive neurodevelopmental disorder, and pathogenic Methyl-CpG-binding Protein 2 (MECP2) variants are identified in >95% of individuals with typical RTT. ...
Rett syndrome (RTT) is a progressive neurodevelopmental disorder, and pathogenic Methyl-CpG-binding Protein 2 (MECP2) variants …
1,034 results