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1993 1
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2020 5
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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. ...
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in th …
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X. Li X, et al. BMC Med Genet. 2017 Nov 15;18(1):131. doi: 10.1186/s12881-017-0486-4. BMC Med Genet. 2017. PMID: 29141583 Free PMC article.
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. ...METHODS: This Chinese MECP2 duplication syndrome
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial …
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507
We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life....
We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension …
MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS.
Tug E, Ergun MA, Percin EF. Tug E, et al. Genet Couns. 2016;27(4):471-478. Genet Couns. 2016. PMID: 30226965
It has been reported that in addition to common mutations or deletions, individuals with chromosomal duplications including either the MECP2 or UBE3A loci show clinical features related to those of MECP2 duplication syndrome, AS, or ASDs. Here we report a 10- …
It has been reported that in addition to common mutations or deletions, individuals with chromosomal duplications including either the MECP2 …
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.
Giudice-Nairn P, Downs J, Wong K, Wilson D, Ta D, Gattas M, Amor D, Thompson E, Kirrali-Borri C, Ellaway C, Leonard H. Giudice-Nairn P, et al. J Paediatr Child Health. 2019 Nov;55(11):1315-1322. doi: 10.1111/jpc.14399. Epub 2019 Feb 12. J Paediatr Child Health. 2019. PMID: 30756435
RESULTS: The birth prevalence of MECP2 duplication syndrome in Australia was 0.65/100 000 for all live births and 1/100 000 for males. ...Early cardiac assessment and ongoing monitoring is recommended for MECP2 duplication syndrome....
RESULTS: The birth prevalence of MECP2 duplication syndrome in Australia was 0.65/100 000 for all live births and 1/100 …
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, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. 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. ...DIAGNOSIS/TESTING: The diagnosi
MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplicatio
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....
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.
MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, intellectual disability, motor dysfunction, anxiety, epilepsy, recurrent respiratory tract infections and early death. ...Given the absence of
MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, in
[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].
Tang DX, Li DF, Wu RH, Zhang LN, Luo XY. Tang DX, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):489-493. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 28506334 Free article. Review. Chinese.
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. ...
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, languag
MECP2 duplication syndrome in both genders.
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Shimada S, et al. Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9. Brain Dev. 2013. PMID: 22877836
This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 …
This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was investigated …
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