MECP2 mutation in one of Rett's original patients

被引：2
|
作者：
Freilinger, M. [3 ]
Berndt, A. [4 ]
Haas, O. A. [1 ,2 ]
机构：
[1] St Anna Childrens Hosp, A-1090 Vienna, Austria
[2] Medgen At GmbH, Vienna, Austria
[3] Med Univ Vienna, Div Gen Pediat & Neonatol, Dept Pediat & Adolescent Med, Vienna, Austria
[4] Labdia GmbH, Vienna, Austria
来源：
JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 09期
关键词：
D O I：
10.1136/jmg.2008.063636
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
下载
收藏
页码：647 / 648
页数：4
相关论文
共 50 条
  • [1] Mutation analysis of the MECP2 gene in patients with Rett syndrome
    Zahorakova, D
    Rosipal, R
    Zeman, J
    Martasek, P
    FASEB JOURNAL, 2006, 20 (04): : A70 - A70
  • [2] Mutation analysis of the MECP2 gene in patients with Rett syndrome
    Conforti, FL
    Mazzei, R
    Magariello, A
    Patitucci, A
    Gabriele, AL
    Muglia, M
    Quattrone, A
    Fiumara, A
    Barone, R
    Pavone, L
    Barone, R
    Nisticò, R
    Mangone, L
    Quattrone, A
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (02): : 184 - 187
  • [3] Phenotypic description of Rett syndrome patients with MECP2 gene mutation
    Santander, P.
    Troncoso, M.
    Cardenas, J.
    Troncoso, L.
    Silva, S.
    Barrios, A.
    Parra, P.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 : E443 - E443
  • [4] MECP2 gene mutation analysis in Chinese patients with Rett syndrome
    Hong Pan
    Yan-Ping Wang
    Xing-Hua Bao
    Hong-Di Meng
    Yan Zhang
    Xi-Ru Wu
    Yan Shen
    European Journal of Human Genetics, 2002, 10 : 484 - 486
  • [5] MECP2 gene mutation analysis in Chinese patients with Rett syndrome
    Pan, H
    Wang, YP
    Bao, XH
    Meng, HD
    Zhang, Y
    Wu, XR
    Shen, Y
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (08) : 484 - 486
  • [6] Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation
    Kong, Yu
    Li, Qiu-bo
    Yuan, Zhao-hong
    Jiang, Xiu-fang
    Zhang, Gu-qing
    Cheng, Nan
    Dang, Na
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [7] Rett syndrome:: a surprising result of mutation in MECP2
    Dragich, J
    Houwink-Manville, I
    Schanen, C
    HUMAN MOLECULAR GENETICS, 2000, 9 (16) : 2365 - 2375
  • [8] Mutation screening of MECP2 and CDKL5 gene in patients with Rett's syndrome
    Zahorakova, D.
    Puchmajerova, A.
    Baxova, A.
    Martasek, P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2009, 16 : 58 - 58
  • [9] The MECP2 gene mutation screening in Rett syndrome patients from Croatia
    Matijevic, Tanja
    Knezevic, Jelena
    Barisic, Ingeborg
    Resic, Biserka
    Culic, Vida
    Pavelic, Jasminka
    SIGNAL TRANSDUCTION PATHWAYS, PT B: STRESS SIGNALING AND TRANSCRIPTIONAL CONTROL, 2006, 1091 : 225 - 232
  • [10] Rett Syndrome and MeCP2
    Liyanage, Vichithra R. B.
    Rastegar, Mojgan
    NEUROMOLECULAR MEDICINE, 2014, 16 (02) : 231 - 264
12345