X-Linked Nephrogenic DI in Female Siblings Due to Skewed X-Chromosome Inactivation

被引:0
|
作者
Chadha, V. [1 ]
机构
[1] VCU Med Ctr, Richmond, VA USA
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
597
引用
收藏
页码:1914 / 1915
页数:2
相关论文
共 50 条
  • [21] X-CHROMOSOME INACTIVATION IN A NOVEL, X-LINKED COMBINED IMMUNODEFICIENCY
    MUSHTAHA, AA
    GOLDMAN, AS
    DENNEY, RM
    RUDLOFF, HB
    SCHMALSTIEG, FC
    CLINICAL RESEARCH, 1992, 40 (04): : A821 - A821
  • [22] Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
    Devriendt, K
    Matthijs, G
    Legius, E
    Schollen, E
    Blockmans, D
    vanGeet, C
    Degreef, H
    Cassiman, JJ
    Fryns, JP
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (03) : 581 - 587
  • [23] Case Report of an Infant Female with X-Linked Chronic Granulomatous Disease Due to a De Novo Mutation in CYBB and Extremely Skewed X-Chromosome Inactivation (Lyonization)
    Alberdi, Taylor
    Morrow, M. R.
    Leiding, Jennifer W.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 137 (02) : AB221 - AB221
  • [24] Skewed X-chromosome inactivation in female patients with autoimmune thyroiditis
    Uz, E.
    Bagislar, G. S.
    Mustafa, C. A.
    Gursoy, A.
    Akarsu, N. A.
    Toruner, G.
    Kamel, N.
    Gullu, S.
    Ozcelik, T.
    FEBS JOURNAL, 2006, 273 : 73 - 73
  • [25] Skewed X-chromosome inactivation in heterozygous female with moderate hemophilia A
    Beskorovainaya, T. S.
    Abrukova, A., V
    Mironovich, O. L.
    Bliznets, E. A.
    Milovidova, T. B.
    Shchagina, O. A.
    Savaskina, E. N.
    Polyakov, A., V
    GEMATOLOGIYA I TRANSFUZIOLOGIYA, 2018, 63 (02): : 184 - 190
  • [26] Skewed X-chromosome inactivation in scleroderma
    Uz, Elif
    Loubiere, Laurence S.
    Gadi, Vijayakrishna K.
    Ozbalkan, Zeynep
    Stewart, Jeffrey
    Nelson, J. Lee
    Ozcelik, Tayfun
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY, 2008, 34 (03) : 352 - 355
  • [27] Skewed X-Chromosome Inactivation in Scleroderma
    Elif Uz
    Laurence S. Loubiere
    Vijayakrishna K. Gadi
    Zeynep Ozbalkan
    Jeffrey Stewart
    J. Lee Nelson
    Tayfun Ozcelik
    Clinical Reviews in Allergy & Immunology, 2008, 34 : 352 - 355
  • [28] A female case of osteopathia striata with cranial sclerosis associated with markedly skewed X-chromosome inactivation: Implication of an X-linked trait.
    Nozaki, Y
    Kubota, T
    Fukushima, Y
    Yamagata, T
    Mizuguchi, M
    Momoi, MY
    Nishimura, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 109 - 109
  • [29] X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa
    Fahim, Abigail T.
    Sullivan, Lori S.
    Bowne, Sara J.
    Webb-Jones, Kaylie
    Wheaton, Dianna K. H.
    Branham, Kari E.
    Othman, Mohammad
    Karoukis, Athanasios J.
    Andrews, Chris
    Heckenlively, John R.
    Birch, David G.
    Daiger, Stephen P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [30] Skewed X inactivation in X-linked disorders
    Van den Veyver, IB
    SEMINARS IN REPRODUCTIVE MEDICINE, 2001, 19 (02) : 183 - 191