Transmission of skewed X-inactivation in familial Rett syndrome.

被引:0
|
作者
Levy, N
Villard, L
Xiang, F
Labelle, V
Tardieu, M
Chelly, J
Fontés, M
机构
[1] Fac Med La Timone, INSERM U491, Marseille, France
[2] Hop Enfants La Timone, Dept Med Genet, Marseille, France
[3] Karolinska Hosp, Dept Mol Med, S-10401 Stockholm, Sweden
[4] UFR Kremlin Bicetre, CR19612, Paris, France
[5] CHU Cochin Port Royal, INSERM U129, Paris, France
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2595
引用
收藏
页码:A457 / A457
页数:1
相关论文
共 50 条
  • [41] Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
    Fieremans, Nathalie
    Van Esch, Hilde
    Holvoet, Maureen
    Van Goethem, Gert
    Devriendt, Koenraad
    Rosello, Monica
    Mayo, Sonia
    Martinez, Francisco
    Jhangiani, Shalini
    Muzny, Donna M.
    Gibbs, Richard A.
    Lupski, James R.
    Vermeesch, Joris R.
    Marynen, Peter
    Froyen, Guy
    HUMAN MUTATION, 2016, 37 (08) : 804 - 811
  • [42] Skewed sex ratio and X-inactivation in spontaneous abortions with trisomy 16 mosaicism
    Kashevarova, Anna A.
    Tolmacheva, Ekataerina N.
    Kharkov, Vladimir N.
    Lebedev, Igor N.
    CELLULAR ONCOLOGY, 2008, 30 (03) : 228 - 228
  • [43] Skewed X-inactivation in extraembyonic tissues and early embryonic lethality in humans.
    Evdokimova, VN
    Nazarenko, SA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 339 - 339
  • [44] Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation
    Bouwman, M. G.
    Rombach, S. M.
    Linthorst, G. E.
    Poorthuis, B. J. H. M.
    Deprez, R. H. Lekanne
    Aerts, J. M. F. G.
    Wijburg, F. A.
    CLINICAL GENETICS, 2011, 80 (05) : 500 - 502
  • [45] Skewed X-inactivation and telomere content in premature ovarian failure: a preliminary study
    Furtado, C.
    Luchiari, H.
    Kogure, G.
    Caetano, L.
    Pedroso, D.
    Ramos, E.
    Calado, R.
    Reis, R.
    HUMAN REPRODUCTION, 2016, 31 : 412 - 413
  • [46] Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
    Usman, Muhammad
    Jueschke, Christoph
    Song, Fei
    Kastrati, Dennis
    Owczarek-Lipska, Marta
    Eilers, Jannis
    Pauleikhoff, Laurenz
    Lange, Clemens
    Neidhardt, John
    LIFE SCIENCE ALLIANCE, 2023, 6 (10)
  • [47] MECP2 analysis in possible familial Rett syndrome.
    Gill, HK
    Cheadle, JP
    Maynard, J
    Fleming, N
    Kerr, A
    Leonard, H
    Thompson, EM
    Hanefeld, F
    Skjeldal, O
    Sampson, J
    Clarke, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 136 - 136
  • [48] ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern
    Badens, Catherine
    Martini, Nathalie
    Courrier, Sebastien
    DesPortes, Vincent
    Touraine, Renaud
    Levy, Nicolas
    Edery, Patrick
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (20) : 2212 - 2215
  • [49] Leri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling
    Baralle, D
    Willatt, LR
    Shears, DJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 95 (04): : 391 - 395
  • [50] Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
    Jungbluth, H
    Sewry, CA
    Buj-Bello, A
    Kristiansen, M
    Orstavik, KH
    Kelsey, A
    Manzur, AY
    Mercuri, E
    Wallgren-Pettersson, C
    Muntoni, F
    NEUROMUSCULAR DISORDERS, 2003, 13 (01) : 55 - 59