Skewed X-inactivation results in a clinically significant bleeding disorder in female carriers of hemophilia

被引：0
|
作者：
Shurin, SB
Sirko-Osadsa, DA
机构：
[1] Case Western Reserve Univ, Rainbow Babies & Childrens Hosp, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Univ Hosp Cleveland, Cleveland, OH 44106 USA
来源：
PEDIATRIC RESEARCH | 2000年 / 47卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
1489
引用
收藏
页码：252A / 252A
页数：1
相关论文
共 50 条
  • [31] Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families
    Martine Raynaud
    Marie-Pierre Moizard
    Benoît Dessay
    Sylvain Briault
    Annick Toutain
    Chantal Gendrot
    Nathalie Ronce
    Claude Moraine
    European Journal of Human Genetics, 2000, 8 : 253 - 258
  • [32] The female X-inactivation mosaic in SLE
    Takeno, M
    Kashiwakura, JI
    Sakane, T
    IMMUNOLOGY TODAY, 1999, 20 (03): : 152 - 153
  • [33] X-INACTIVATION AND IMMUNOCOMPETENCE IN FEMALE CARRIERS OF THE X-LINKED HYPER-IGM-SYNDROME
    KIPPS, TJ
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02): : 469 - 469
  • [34] Correlation of X Chromosome Inactivation Skewing and Bleeding Phenotype in Obligate Carriers of Hemophilia A
    Cygan, Peter H.
    Carrel, Laura
    Eyster, M. Elaine
    BLOOD, 2015, 126 (23)
  • [35] Hemophilia B in a female carrier due to skewed inactivation of the normal x-chromosome
    Chan, V
    Chan, VWY
    Yip, B
    Chim, CS
    Chan, TK
    AMERICAN JOURNAL OF HEMATOLOGY, 1998, 58 (01) : 72 - 76
  • [36] An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation
    Tan, Xiaoyan
    Yang, Yi
    Wu, Xia
    Zhu, Jing
    Wang, Teng
    Jiang, Huihui
    Chen, Shu
    Lou, Shifeng
    FRONTIERS IN GENETICS, 2025, 15
  • [37] Hemophilia A in carriers due to skewed X chromosome inactivation impacts the quality of life of affected females
    Renault, N.
    Howell, R.
    Renault, M.
    Dyack, S.
    Greer, W.
    HAEMOPHILIA, 2008, 14 : 156 - 156
  • [38] Transmission of skewed X-inactivation in familial Rett syndrome.
    Levy, N
    Villard, L
    Xiang, F
    Labelle, V
    Tardieu, M
    Chelly, J
    Fontés, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A457 - A457
  • [39] Recurrent spontaneous abortion and skewed X-inactivation: is there an association? Discussion
    Branch, D. Ware
    Hogge
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2007, 196 (04)
  • [40] X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation
    Amaral, Joana Barroso
    Paiva, Artur Augusto
    Ramos, Fabiana Viana
    Stasia, Marie Jose
    Lemos, Sonia Gaspar
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2018, 120 (03) : 328 - 329
12345