Whole Exome Sequencing of Patients with Rett-like Features Negative for MECP2 Mutations

被引:0
|
作者
Olson, H. E.
Khwaja, O.
Poduri, A.
Kaufmann, W.
机构
关键词
Epilepsy and other paroxysmal disorders; Genetics;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:S160 / S161
页数:2
相关论文
共 50 条
  • [21] The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
    Ballestar, E
    Ropero, S
    Alaminos, M
    Armstrong, J
    Setien, F
    Agrelo, R
    Fraga, MF
    Herranz, M
    Avila, S
    Pineda, M
    Monros, E
    Esteller, M
    [J]. HUMAN GENETICS, 2005, 116 (1-2) : 91 - 104
  • [22] Two novel mutations in the MECP2 gene in patients with Rett syndrome
    Alashti, Shayan Khalili
    Fallahi, Jafar
    Mohammadi, Sanaz
    Dehghanian, Fatemeh
    Farbood, Zahra
    Masoudi, Marjan
    Poorang, Shiva
    Jokar, Arezoo
    Fardaei, Majid
    [J]. GENE, 2020, 732
  • [23] Spectrum of MECP2 mutations in New Zealand Rett syndrome patients
    Raizis, Anthony M.
    Saleem, Mohammed
    MacKay, Richard
    George, Peter M.
    [J]. NEW ZEALAND MEDICAL JOURNAL, 2009, 122 (1296) : 21 - 28
  • [24] Rett syndrome: analysis of MECP2 mutations in Brazilian patients.
    Lima, FT
    Vasques, LR
    Garcia, SMN
    Kok, F
    Otto, PG
    Pereira, LV
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 402 - 402
  • [25] MECP2 mutations in Swedish Rett syndrome clusters
    Xiang, FQ
    Stenbom, Y
    Anvret, M
    [J]. CLINICAL GENETICS, 2002, 61 (05) : 384 - 385
  • [26] MECP2 Mutations in the Rett Syndrome Patients from South India
    Anitha, Ayyappan
    Poovathinal, Suresh A.
    Viswambharan, Vijitha
    Thanseem, Ismail
    Iype, Mary
    Anoop, U.
    Sumitha, P. S.
    Parakkal, Rahna
    Vasu, Mahesh M.
    [J]. NEUROLOGY INDIA, 2022, 70 (01) : 249 - 253
  • [27] MECP2 Mutations in People Without Rett Syndrome
    Suter, B.
    Treadwell-Dearing, D.
    Zoghbi, H.
    Glaze, D.
    Neul, J. L.
    [J]. ANNALS OF NEUROLOGY, 2010, 68 (04) : S98 - S99
  • [28] MeCP2 mutations and gastrointestinal phenotype in Rett Syndrome
    Bibat, G
    Cuffari, C
    Naidu, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 272 - 272
  • [29] Rett mutations attenuate phase separation of MeCP2
    Fan, Chunyan
    Zhang, Honglian
    Fu, Liangzheng
    Li, Yuejiao
    Du, Yi
    Qiu, Zilong
    Lu, Falong
    [J]. CELL DISCOVERY, 2020, 6 (01)
  • [30] Rett mutations attenuate phase separation of MeCP2
    Chunyan Fan
    Honglian Zhang
    Liangzheng Fu
    Yuejiao Li
    Yi Du
    Zilong Qiu
    Falong Lu
    [J]. Cell Discovery, 6