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MECP2 Duplication Syndrome.
Van Esch H. Van Esch H. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301461 Free Books & Documents. Review.
MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features,
MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplicatio
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.
Collins BE, Neul JL. Collins BE, et al. Neuropsychiatr Dis Treat. 2022 Nov 29;18:2813-2835. doi: 10.2147/NDT.S371483. eCollection 2022. Neuropsychiatr Dis Treat. 2022. PMID: 36471747 Free PMC article. Review.
Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein. RTT is a MECP2-related disorder, along with MECP2 duplication syndrome ( …
Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding prote …
Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies.
Sandweiss AJ, Brandt VL, Zoghbi HY. Sandweiss AJ, et al. Lancet Neurol. 2020 Aug;19(8):689-698. doi: 10.1016/S1474-4422(20)30217-9. Lancet Neurol. 2020. PMID: 32702338 Review.
Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome. Research on the mechanisms by which MeCP2 exerts effects on gene expression in neurons, studies of animal models bearing d …
Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication
MECP2 and the biology of MECP2 duplication syndrome.
D'Mello SR 3rd. D'Mello SR 3rd. J Neurochem. 2021 Oct;159(1):29-60. doi: 10.1111/jnc.15331. Epub 2021 Aug 25. J Neurochem. 2021. PMID: 33638179 Free article. Review.
MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, is caused by duplication of the chromosomal region containing the methyl CpG binding protein-2 (MECP2) gene, which encodes methyl-CpG-binding protein 2 (MECP2),
MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, is caused by duplicat
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.
Ta D, Downs J, Baynam G, Wilson A, Richmond P, Leonard H. Ta D, et al. Orphanet J Rare Dis. 2022 Mar 21;17(1):131. doi: 10.1186/s13023-022-02278-w. Orphanet J Rare Dis. 2022. PMID: 35313898 Free PMC article. Review.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). ...
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl
The MECP2 duplication syndrome.
Ramocki MB, Tavyev YJ, Peters SU. Ramocki MB, et al. Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184. Am J Med Genet A. 2010. PMID: 20425814 Free PMC article. Review.
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication sy
MECP2 Duplication Syndrome.
Van Esch H. Van Esch H. Mol Syndromol. 2012 Apr;2(3-5):128-136. doi: 10.1159/000329580. Epub 2011 Jul 5. Mol Syndromol. 2012. PMID: 22679399 Free PMC article.
Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome....
Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome....
MECP2-Related Disorders in Males.
Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J. Pascual-Alonso A, et al. Int J Mol Sci. 2021 Sep 4;22(17):9610. doi: 10.3390/ijms22179610. Int J Mol Sci. 2021. PMID: 34502518 Free PMC article. Review.
Conversely, the entire duplication of the MECP2 gene is related to MECP2 duplication syndrome (MDS). Unlike in RTT, in MDS, males are predominantly affected. ...
Conversely, the entire duplication of the MECP2 gene is related to MECP2 duplication syndrome (MDS). Unlike in RTT, in …
Exploring gastrointestinal health in MECP2 duplication syndrome.
Pehlivan D, Ak M, Glaze DG, Suter B, Motil KJ. Pehlivan D, et al. Neurogastroenterol Motil. 2023 Aug;35(8):e14601. doi: 10.1111/nmo.14601. Epub 2023 Apr 30. Neurogastroenterol Motil. 2023. PMID: 37122114
BACKGROUND: MECP2 duplication syndrome (MDS) is a rare neurogenetic syndrome caused by duplications of MECP2 at the Xq28 region. ...
BACKGROUND: MECP2 duplication syndrome (MDS) is a rare neurogenetic syndrome caused by duplications of MECP2 at the Xq2 …
184 results