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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.
The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication
The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function o …
MECP2 Duplication Syndrome.
Van Esch H. Van Esch H. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 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. ...Surveillance: Rou
MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Peters SU, et al. Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15. Clin Genet. 2019. PMID: 30788845 Free PMC article.
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. ...Utilizing existing indices of clinical severity in Rett …
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in th …
[Familial MECP2 duplication syndrome].
Gutiérrez-Sánchez AM, Marín-Andrés M, López-Lafuente A, Monge-Galindo L, López-Pisón J, Peña-Segura JL. Gutiérrez-Sánchez AM, et al. Rev Neurol. 2020 Apr 16;70(8):309-310. doi: 10.33588/rn.7008.2019457. Rev Neurol. 2020. PMID: 32242339 Free article. Spanish.
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.
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. …
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic f …
MECP2 duplication syndrome in a patient from Cameroon.
Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A. Tekendo-Ngongang C, et al. Am J Med Genet A. 2020 Apr;182(4):619-622. doi: 10.1002/ajmg.a.61510. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052928 Free PMC article.
MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). ...Here, we describe a m
MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrec
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
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication sy
[Advance in research on MECP2 [corrected] duplication syndrome].
Zhang Q, Bao X. Zhang Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):426-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26037367 Review. Chinese.
The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostly seen in males. The clinical manifestation of this syndrome include mental retardation, hypotonia, poor speech develop …
The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostl …
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Peters SU, et al. Am J Med Genet A. 2021 Feb;185(2):362-369. doi: 10.1002/ajmg.a.61956. Epub 2020 Nov 10. Am J Med Genet A. 2021. PMID: 33170557
BACKGROUND: MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. ...
BACKGROUND: MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by inters …
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.
Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY. Sztainberg Y, et al. Nature. 2015 Dec 3;528(7580):123-6. doi: 10.1038/nature16159. Epub 2015 Nov 25. Nature. 2015. PMID: 26605526 Free PMC article.
Given the absence of neurodegeneration in MECP2 duplication syndrome, we propose that restoration of normal MeCP2 levels in MECP2 duplication adult mice would rescue their phenotype. ...We find that antisense oligonucleotide treatment ind …
Given the absence of neurodegeneration in MECP2 duplication syndrome, we propose that restoration of normal MeCP2
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