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MECP2 Duplication Syndrome.
Van Esch H. Van Esch H. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 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 …
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 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 …
MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, is caus …
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 dupli …
Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-bindin …
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome.
Shao Y, Sztainberg Y, Wang Q, Bajikar SS, Trostle AJ, Wan YW, Jafar-Nejad P, Rigo F, Liu Z, Tang J, Zoghbi HY. Shao Y, et al. Sci Transl Med. 2021 Mar 3;13(583):eaaz7785. doi: 10.1126/scitranslmed.aaz7785. Sci Transl Med. 2021. PMID: 33658357 Free PMC article.
Many intellectual disability disorders are due to copy number variations, and, to date, there have been no treatment options tested for this class of diseases. MECP2 duplication syndrome (MDS) is one of the most common genomic rearrangements in males and resu …
Many intellectual disability disorders are due to copy number variations, and, to date, there have been no treatment options tested for this …
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 duplicat …
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-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.
Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females. ...Conversely, the entire duplication of the MECP2 gene is related to MECP2 duplication sy …
Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affec …
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 …
Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series.
Lorenzo J, Dolce A, Lowden A. Lorenzo J, et al. J Child Neurol. 2021 Oct;36(12):1086-1094. doi: 10.1177/08830738211030804. Epub 2021 Sep 6. J Child Neurol. 2021. PMID: 34486423
OBJECTIVE: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. …
OBJECTIVE: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by …
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