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For: Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M. MECP2 duplication syndrome in both genders. Brain Dev. 2013;35:411-419. [PMID: 22877836 DOI: 10.1016/j.braindev.2012.07.010] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 3.8] [Reference Citation Analysis]
Number Citing Articles
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6 Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T. Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. Hum Genome Var 2016;3:16033. [PMID: 27790374 DOI: 10.1038/hgv.2016.33] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
7 Giudice‐nairn P, Downs J, Wong K, Wilson D, Ta D, Gattas M, Amor D, Thompson E, Kirrali‐borri C, Ellaway C, Leonard H. The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children. J Paediatr Child Health 2019;55:1315-22. [DOI: 10.1111/jpc.14399] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
8 Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet 2014;133:1359-67. [DOI: 10.1007/s00439-014-1469-6] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 2.0] [Reference Citation Analysis]
9 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
10 Rangasamy S, D'Mello SR, Narayanan V. Epigenetics, autism spectrum, and neurodevelopmental disorders. Neurotherapeutics 2013;10:742-56. [PMID: 24104594 DOI: 10.1007/s13311-013-0227-0] [Cited by in Crossref: 67] [Cited by in F6Publishing: 56] [Article Influence: 8.4] [Reference Citation Analysis]
11 Novara F, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi O, Ciccone R. MECP2 duplication phenotype in symptomatic females: report of three further cases. Mol Cytogenet 2014;7:10. [PMID: 24472397 DOI: 10.1186/1755-8166-7-10] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 2.3] [Reference Citation Analysis]
12 Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Am J Med Genet 2013;161:1779-85. [DOI: 10.1002/ajmg.a.35975] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.7] [Reference Citation Analysis]
13 Lim Z, Downs J, Wong K, Ellaway C, Leonard H. Expanding the clinical picture of the MECP2 Duplication syndrome. Clin Genet 2017;91:557-63. [PMID: 27247049 DOI: 10.1111/cge.12814] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 4.5] [Reference Citation Analysis]
14 Reichow B, George-Puskar A, Lutz T, Smith IC, Volkmar FR. Brief report: systematic review of Rett syndrome in males. J Autism Dev Disord 2015;45:3377-83. [PMID: 26254891 DOI: 10.1007/s10803-015-2519-1] [Cited by in Crossref: 35] [Cited by in F6Publishing: 27] [Article Influence: 5.8] [Reference Citation Analysis]
15 Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients. Eur J Paediatr Neurol 2014;18:475-81. [PMID: 24703762 DOI: 10.1016/j.ejpn.2014.03.005] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 1.6] [Reference Citation Analysis]
16 Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, Imai K, Okamoto N. Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var 2014;1:14001. [PMID: 27081496 DOI: 10.1038/hgv.2014.1] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 2.4] [Reference Citation Analysis]
17 Javed S, Selliah T, Lee YJ, Huang WH. Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy. Neurosci Biobehav Rev 2020;118:538-67. [PMID: 32858083 DOI: 10.1016/j.neubiorev.2020.08.009] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
18 Signorini C, De Felice C, Leoncini S, Møller RS, Zollo G, Buoni S, Cortelazzo A, Guerranti R, Durand T, Ciccoli L, D'Esposito M, Ravn K, Hayek J. MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. PLoS One 2016;11:e0150101. [PMID: 26930212 DOI: 10.1371/journal.pone.0150101] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 2.3] [Reference Citation Analysis]
19 Deng H, Zheng W, Song Z. Genetics, Molecular Biology, and Phenotypes of X-Linked Epilepsy. Mol Neurobiol 2014;49:1166-80. [DOI: 10.1007/s12035-013-8589-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
20 Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T. A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. Intractable Rare Dis Res 2017;6:177-82. [PMID: 28944139 DOI: 10.5582/irdr.2017.01031] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
21 Zhang Q, Zhao Y, Yang Y, Bao X. MECP2 duplication syndrome in a Chinese family. BMC Med Genet 2015;16:112. [PMID: 26672597 DOI: 10.1186/s12881-015-0264-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
22 Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. BMC Med Genet 2017;18:131. [PMID: 29141583 DOI: 10.1186/s12881-017-0486-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
23 Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities. J Hum Genet 2014;59:300-6. [DOI: 10.1038/jhg.2014.21] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.3] [Reference Citation Analysis]
24 Imaizumi T, Yamamoto‐shimojima K, Yamamoto H, Yamamoto T. Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction. Congenit Anom 2019;60:10-4. [DOI: 10.1111/cga.12325] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
25 Voinova VY, Vorsanova SG, Yurov YB, Kolotiy AD, Davidova YI, Demidova IA, Novikov PV, Iourov IY. [Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene]. Zh Nevrol Psikhiatr Im S S Korsakova 2015;115:10-6. [PMID: 26525614 DOI: 10.17116/jnevro201511510110-16] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
26 Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet 2019;64:665-71. [PMID: 31004103 DOI: 10.1038/s10038-019-0600-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
27 Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China. Eur J Med Genet 2016;59:347-53. [PMID: 27180140 DOI: 10.1016/j.ejmg.2016.05.004] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
28 El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-bastaraud S, Doco-fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-boidron A, Mugneret F, Le Meur N, Goldenberg A, Guerrot A, Chambon P, Satre V, Coutton C, Jouk P, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard M, Addor M, Lebon S, Martinet D, Alessandri J, Doray B, Miguet M, Devys D, Saugier-veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet A, Thevenon J, Thauvin-robinet C, Perreton N, Des Portes V, Faivre L. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?: Xq28 duplication including MECP2 in six unreported affected females. Clin Genet 2017;91:576-88. [DOI: 10.1111/cge.12898] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
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33 Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Clin Dysmorphol 2017;26:73-7. [PMID: 28257338 DOI: 10.1097/MCD.0000000000000171] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
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35 Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev 2015;37:515-26. [PMID: 25172301 DOI: 10.1016/j.braindev.2014.08.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 3.4] [Reference Citation Analysis]
36 San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC. MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum. Child Neurol Open 2016;3:2329048X16630673. [PMID: 28503606 DOI: 10.1177/2329048X16630673] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
37 Montgomery KR, Louis Sam Titus ASC, Wang L, D'Mello SR. Elevated MeCP2 in Mice Causes Neurodegeneration Involving Tau Dysregulation and Excitotoxicity: Implications for the Understanding and Treatment of MeCP2 Triplication Syndrome. Mol Neurobiol 2018;55:9057-74. [PMID: 29637441 DOI: 10.1007/s12035-018-1046-4] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
38 Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM. Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. Neurology 2019;92:e108-14. [PMID: 30552298 DOI: 10.1212/WNL.0000000000006742] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 2.8] [Reference Citation Analysis]