Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Author:

Demily Caroline,Rossi Massimiliano,Chesnoy-Servanin Gabrielle,Martin Brice,Poisson Alice,Sanlaville Damien,Edery Patrick

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, et al: An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities. Genet Med. 2011, 13: 777-784. 10.1097/GIM.0b013e31822c79f9.

2. Sanders SJ, Ercan-Sencicek AG, Hus V, Rui L, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PBS, Choi ML, Crawford EL, Davis L, Davis Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, et al: Multiple recurent de novo copy number variations (CNVs) including duplications of the 7q11.23 Williams-Beuren syndrome region are strongly associated with autism. Neuron. 2011, 70: 863-885. 10.1016/j.neuron.2011.05.002.

3. Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J: Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Am J Med Genet A. 2009, 149A: 2584-2587. 10.1002/ajmg.a.32772.

4. Valli R, Marletta C, Pressato B, Montalbano G, Lo Curto F, Pasquali F, Maserati E: Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells. Mol Cytogenet. 2011, 9: 4-13.

5. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, et al: Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014, 94: 677-679. 10.1016/j.ajhg.2014.03.018.

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3