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Cited by in F6Publishing
For: Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T. Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res. 2010;89:303-309. [PMID: 20227246 DOI: 10.1016/j.eplepsyres.2010.02.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 31] [Article Influence: 2.3] [Reference Citation Analysis]
Number Citing Articles
1 Shimojima K, Okamoto N, Yamamoto T. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet 2016;170:1076-9. [DOI: 10.1002/ajmg.a.37545] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.3] [Reference Citation Analysis]
2 Lockrow JP, Holden KR, Dwivedi A, Matheus MG, Lyons MJ. LIS1 duplication: expanding the phenotype. J Child Neurol 2012;27:791-5. [PMID: 22190508 DOI: 10.1177/0883073811425972] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
3 Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T. Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. J Hum Genet 2012;57:593-600. [PMID: 22718018 DOI: 10.1038/jhg.2012.77] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
4 Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. Genomics 2015;106:196-203. [DOI: 10.1016/j.ygeno.2015.07.001] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.4] [Reference Citation Analysis]
5 Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3. Front Genet 2018;9:80. [PMID: 29628935 DOI: 10.3389/fgene.2018.00080] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 7.0] [Reference Citation Analysis]
6 Liang J, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. CDKL5 alterations lead to early epileptic encephalopathy in both genders: CDKL5 Alterations in Both Genders. Epilepsia 2011;52:1835-42. [DOI: 10.1111/j.1528-1167.2011.03174.x] [Cited by in Crossref: 50] [Cited by in F6Publishing: 44] [Article Influence: 4.5] [Reference Citation Analysis]
7 Sapir T, Frotscher M, Levy T, Mandelkow EM, Reiner O. Tau's role in the developing brain: implications for intellectual disability. Hum Mol Genet 2012;21:1681-92. [PMID: 22194194 DOI: 10.1093/hmg/ddr603] [Cited by in Crossref: 51] [Cited by in F6Publishing: 52] [Article Influence: 4.6] [Reference Citation Analysis]
8 Farra C, Abdouni L, Hani A, Dirani L, Hamdar L, Souaid M, Awwad J. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum. J Pediatr Genet 2021;10:239-44. [PMID: 34504729 DOI: 10.1055/s-0040-1713673] [Reference Citation Analysis]
9 Coppola A, Morrogh D, Farrell F, Balestrini S, Hernandez-Hernandez L, Krithika S, Sander JW, Waters JJ, Sisodiya SM. Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. Mol Syndromol 2017;9:38-44. [PMID: 29456482 DOI: 10.1159/000479949] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
10 Barros Fontes MI, Dos Santos AP, Rossi Torres F, Lopes-Cendes I, Cendes F, Appenzeller S, Kawasaki de Araujo T, Lopes Monlleó I, Gil-da-Silva-Lopes VL. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation. Mol Syndromol 2017;8:36-41. [PMID: 28232781 DOI: 10.1159/000452753] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
11 Morales D, Skoulakis EC, Acevedo SF. 14-3-3s are potential biomarkers for HIV-related neurodegeneration. J Neurovirol 2012;18:341-53. [PMID: 22811265 DOI: 10.1007/s13365-012-0121-2] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 0.9] [Reference Citation Analysis]
12 Romano C, Ferranti S, Mencarelli MA, Longo I, Renieri A, Grosso S. 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization. Neurol Sci 2020;41:2259-62. [PMID: 32323081 DOI: 10.1007/s10072-020-04424-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
13 Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ. Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. Eur J Med Genet 2020;63:103774. [PMID: 31585183 DOI: 10.1016/j.ejmg.2019.103774] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
14 Shimojima K, Okumura A, Yamamoto T. A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. Data Brief 2015;4:488-91. [PMID: 26958590 DOI: 10.1016/j.dib.2015.07.017] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
15 Liu X, Bennison SA, Robinson L, Toyo-oka K. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε). Brain Sciences 2022;12:56. [DOI: 10.3390/brainsci12010056] [Reference Citation Analysis]
16 Wang S, Wang W, Han X, Wang Y, Ge Y, Tan Z. Dysregulation of miR484-TUSC5 axis takes part in the progression of hepatocellular carcinoma. J Biochem 2019;166:271-9. [PMID: 31157375 DOI: 10.1093/jb/mvz034] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
17 Reiner O. LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules. Scientifica (Cairo) 2013;2013:393975. [PMID: 24278775 DOI: 10.1155/2013/393975] [Cited by in Crossref: 22] [Cited by in F6Publishing: 26] [Article Influence: 2.4] [Reference Citation Analysis]
18 Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. Am J Med Genet A 2013;161A:1453-8. [PMID: 23633430 DOI: 10.1002/ajmg.a.35904] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.2] [Reference Citation Analysis]
19 Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain Dev 2017;39:177-81. [PMID: 27670155 DOI: 10.1016/j.braindev.2016.08.008] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
20 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]
21 Venø MT, Venø ST, Rehberg K, van Asperen JV, Clausen BH, Holm IE, Pasterkamp RJ, Finsen B, Kjems J. Cortical Morphogenesis during Embryonic Development Is Regulated by miR-34c and miR-204. Front Mol Neurosci 2017;10:31. [PMID: 28232790 DOI: 10.3389/fnmol.2017.00031] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
22 Markova ZG, Minzhenkova ME, Bessonova LA, Shilova NV. A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization. Mol Cytogenet 2021;14:41. [PMID: 34465353 DOI: 10.1186/s13039-021-00562-1] [Reference Citation Analysis]
23 Shimojima K, Okumura A, Natsume J, Aiba K, Kurahashi H, Kubota T, Yokochi K, Yamamoto T. Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. Brain and Development 2012;34:230-3. [DOI: 10.1016/j.braindev.2011.04.014] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
24 Chen C, Ko T, Wang L, Chern S, Wu P, Chen S, Lai S, Chuang T, Yang C, Lee C, Wang W. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. Taiwanese Journal of Obstetrics and Gynecology 2018;57:128-32. [DOI: 10.1016/j.tjog.2017.12.022] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
25 Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern. Hum Mutat 2020;41:2119-27. [PMID: 32906213 DOI: 10.1002/humu.24108] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
26 Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Saint Martin A, Boutry-kryza N, Cloarec R, Benitto A, Ameil A, Edery P, Ryvlin P, De Bellescize J, Szepetowski P, Sanlaville D. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Epilepsia 2014;55:370-8. [DOI: 10.1111/epi.12502] [Cited by in Crossref: 47] [Cited by in F6Publishing: 40] [Article Influence: 5.2] [Reference Citation Analysis]
27 Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K. De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. Mol Cytogenet 2013;6:15. [PMID: 23552394 DOI: 10.1186/1755-8166-6-15] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
28 Zhou R, Jiang G, Tian X, Wang X. Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells. Epilepsia Open 2018;3:331-9. [PMID: 30187003 DOI: 10.1002/epi4.12238] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
29 Blazejewski SM, Bennison SA, Ha NT, Liu X, Smith TH, Dougherty KJ, Toyo-Oka K. Rpsa Signaling Regulates Cortical Neuronal Morphogenesis via Its Ligand, PEDF, and Plasma Membrane Interaction Partner, Itga6. Cereb Cortex 2021:bhab242. [PMID: 34347028 DOI: 10.1093/cercor/bhab242] [Reference Citation Analysis]
30 Katayama KI, Hayashi K, Inoue S, Sakaguchi K, Nakajima K. Enhanced expression of Pafah1b1 causes over-migration of cerebral cortical neurons into the marginal zone. Brain Struct Funct 2017;222:4283-91. [PMID: 28836069 DOI: 10.1007/s00429-017-1497-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
31 Enomoto K, Kishitani Y, Tominaga M, Ishikawa A, Furuya N, Aida N, Masuno M, Yamada K, Kurosawa K. Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl. Am J Med Genet A 2012;158A:2347-52. [PMID: 22887762 DOI: 10.1002/ajmg.a.35542] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.3] [Reference Citation Analysis]
32 Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T. Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. J Hum Genet 2020;65:735-41. [PMID: 32355308 DOI: 10.1038/s10038-020-0762-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
33 Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A 2013;161A:1833-52. [PMID: 23813913 DOI: 10.1002/ajmg.a.35996] [Cited by in Crossref: 37] [Cited by in F6Publishing: 35] [Article Influence: 4.1] [Reference Citation Analysis]