MECP2 and CDKL5 mutation analysis in patients with Rett syndrome

被引:0
|
作者
Zahorakova, D. [1 ]
Puchmajerova, A. [1 ]
Baxova, A. [2 ]
Martasek, P. [1 ]
机构
[1] Charles Univ Prague, Fac Med 1, Dept Pediat, Prague, Czech Republic
[2] Gen Univ Hosp, Inst Biol & Clin Genet, Prague, Czech Republic
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
引用
收藏
页码:353 / 354
页数:2
相关论文
共 50 条
  • [21] Phenotypic description of Rett syndrome patients with MECP2 gene mutation
    Santander, P.
    Troncoso, M.
    Cardenas, J.
    Troncoso, L.
    Silva, S.
    Barrios, A.
    Parra, P.
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 : E443 - E443
  • [22] Rett syndrome:: a surprising result of mutation in MECP2
    Dragich, J
    Houwink-Manville, I
    Schanen, C
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (16) : 2365 - 2375
  • [23] Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
    Dumitriu, Simona
    Klootwijk, Enriko
    Issler, Naomi
    Stanescu, Horia
    Kleta, Robert
    Puiu, Maria
    [J]. REVISTA ROMANA DE MEDICINA DE LABORATOR, 2013, 21 (04): : 437 - 446
  • [24] Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
    Gill, H
    Cheadle, JP
    Maynard, J
    Fleming, N
    Whatley, S
    Cranston, T
    Thompson, EM
    Leonard, H
    Davis, M
    Christodoulou, J
    Skjeldal, O
    Hanefeld, F
    Kerr, A
    Tandy, A
    Ravine, D
    Clarke, A
    [J]. JOURNAL OF MEDICAL GENETICS, 2003, 40 (05) : 380 - 384
  • [25] MOLECULAR DIAGNOSIS OF RETT SYNDROME: MUTATION ANALYSIS OF THE MECP2 GENE
    Zahorakova, D.
    Rosipal, R.
    Hadac, J.
    Misovicova, N.
    Zumrova, A.
    Bzduch, V.
    Zeman, J.
    Martasek, P.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 255 - 255
  • [26] CDKL5 is a brain MeCP2 target gene regulated by DNA methylation
    Carouge, Delphine
    Host, Lionel
    Aunis, Dominique
    Zwiller, Jean
    Anglard, Patrick
    [J]. NEUROBIOLOGY OF DISEASE, 2010, 38 (03) : 414 - 424
  • [27] Rett Syndrome and MeCP2
    Liyanage, Vichithra R. B.
    Rastegar, Mojgan
    [J]. NEUROMOLECULAR MEDICINE, 2014, 16 (02) : 231 - 264
  • [28] Comprehensive mutation analysis of the MECP2 gene and the analysis of 54 Rett syndrome suspected patients
    Vos, YJ
    Mol, GJJ
    Begeer, JH
    Verlind, E
    van den Akker, PC
    Buys, CHCM
    Hordijk, R
    Hofstra, RMW
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 230 - 230
  • [29] Rett Syndrome and MeCP2
    Vichithra R. B. Liyanage
    Mojgan Rastegar
    [J]. NeuroMolecular Medicine, 2014, 16 : 231 - 264
  • [30] CDKL5 Mutation In A Case With Diagnosis Of Refractory Epilepsy And Atypical Rett Syndrome
    Canpolat, M.
    Cirakli, S.
    Aktas, D.
    Alikasifoglu, M.
    Kumandas, S.
    [J]. EPILEPSIA, 2018, 59 : S208 - S208