Copy number variants account for at least 2% of non-syndromic cardiomyopathies

被引：0
|
作者：
Honti, F. [1 ]
Beaman, G. [2 ,3 ]
Edwards, M. [1 ]
Monk, T. [1 ]
Wilkinson, S. [1 ]
Brett, L. [1 ]
Cook, S. [4 ,5 ,6 ]
Ware, J. S. [4 ,6 ,7 ]
Newman, W. G. [2 ,3 ]
Morris-Rosendahl, D. [1 ]
机构：
[1] Royal Brompton & Harefield NHS Fdn Trust, Clin Genet & Genom, London, England
[2] Univ Manchester, Evolut & Genom Sci, Manchester, Lancs, England
[3] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England
[4] Imperial Coll London, Cardiovasc Genet & Genom, NHLI, London, England
[5] Natl Heart Ctr Singapore, Natl Heart Res Inst Singapore, Singapore, Singapore
[6] MRC London Inst Med Sci, London, England
[7] Royal Brompton & Harefield NHS Fdn Trust, London, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
C21.4
引用
收藏
页码：105 / 105
页数：1
相关论文
共 50 条
  • [1] Copy number variants are a common cause of non-syndromic hearing loss
    Shearer, A. Eliot
    Kolbe, Diana L.
    Azaiez, Hela
    Sloan, Christina M.
    Frees, Kathy L.
    Weaver, Amy E.
    Clark, Erika T.
    Nishimura, Carla J.
    Black-Ziegelbein, E. Ann
    Smith, Richard J. H.
    [J]. GENOME MEDICINE, 2014, 6
  • [2] Copy number variants are a common cause of non-syndromic hearing loss
    A Eliot Shearer
    Diana L Kolbe
    Hela Azaiez
    Christina M Sloan
    Kathy L Frees
    Amy E Weaver
    Erika T Clark
    Carla J Nishimura
    E Ann Black-Ziegelbein
    Richard J H Smith
    [J]. Genome Medicine, 6
  • [3] Cytogenetic microarray copy number variants in patients with non-syndromic, single suture craniosynostosis
    Lancaster, Kristen
    Wilson, Kathleen
    Scheuerle, Angela
    [J]. MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S92 - S93
  • [4] Genomic copy number alterations in non-syndromic hearing loss
    Rosenberg, C.
    Freitas, E. L.
    Uehara, D. T.
    Auricchio, M. T. B. M.
    Costa, S. S.
    Oiticica, J.
    Silva, A. G.
    Krepischi, A. C.
    Mingroni-Netto, R. C.
    [J]. CLINICAL GENETICS, 2016, 89 (04) : 473 - 477
  • [5] Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus Arteriosus
    Chen, Bo
    Hou, Aiping
    Zhao, Lin
    Liu, Ying
    Shi, Xin
    Du, Bowen
    Yu, Yu
    Zhao, Pengjun
    Gao, Ying
    [J]. FRONTIERS IN GENETICS, 2020, 11
  • [6] Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects
    Breckpot, J.
    Thienpont, B.
    Arens, Y.
    Tranchevent, L. C.
    Vermeesch, J. R.
    Moreau, Y.
    Gewillig, M.
    Devriendt, K.
    [J]. CYTOGENETIC AND GENOME RESEARCH, 2011, 135 (3-4) : 251 - 259
  • [7] Copy number variation (cnv) in Chinese non-syndromic sporadic tetralogy of fallot patients
    Wang, Huijun
    Ma, Xiaojing
    Yang, Lin
    Qian, Yanyan
    Zheng, Fengyun
    Wu, Bai-Lin
    Tian, Weidong
    Ma, Duan
    Huang, Guoying
    [J]. CIRCULATION, 2012, 125 (19) : E827 - E827
  • [8] Chromosome copy number variants in fetuses with syndromic malformations
    Wang, Huilin
    Chau, Matthew Hoi Kin
    Cao, Ye
    Kwok, Ka Yin
    Choy, Kwong Wai
    [J]. BIRTH DEFECTS RESEARCH, 2017, 109 (10): : 725 - 733
  • [9] Common variants ofEDAare associated with non-syndromic hypodontia
    Al-Ani, Azza H.
    Antoun, Joseph S.
    Thomson, William M.
    Topless, Ruth
    Merriman, Tony R.
    Farella, Mauro
    [J]. ORTHODONTICS & CRANIOFACIAL RESEARCH, 2021, 24 (01) : 155 - 163
  • [10] Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort
    Streata, Ioana
    Caramizaru, Alexandru
    Riza, Anca-Lelia
    Serban-Sosoi, Simona
    Pirvu, Andrei
    Cara, Monica-Laura
    Cucu, Mihai-Gabriel
    Dobrescu, Amelia Mihaela
    Shelby, Elena-Silvia
    Albeanu, Adriana
    Burada, Florin
    Ioana, Mihai
    [J]. DIAGNOSTICS, 2022, 12 (12)
12345