Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing

被引:8
|
作者
Saito, R. [1 ,2 ]
Boyce, A. [1 ,3 ]
Hsu, C. -K. [1 ,4 ,5 ]
Rashidghamat, E. [1 ]
Hide, M. [2 ]
Wedgeworth, E. K. [3 ]
Flohr, C. [1 ,3 ]
Mellerio, J. E. [1 ,3 ]
McGrath, J. A. [1 ]
机构
[1] Kings Coll London, St Johns Inst Dermatol, Guys Hosp, London, England
[2] Hiroshima Univ, Dept Dermatol, Hiroshima, Japan
[3] Guys & St Thomas NHS Fdn Trust, St Johns Inst Dermatol, London, England
[4] Natl Cheng Kung Univ, Natl Cheng Kung Univ Hosp, Dept Dermatol, Coll Med, Tainan, Taiwan
[5] Natl Cheng Kung Univ, Inst Clin Med, Coll Med, Tainan, Taiwan
关键词
CONFETTI; MUTATIONS; KRT10; DIAGNOSIS; REVERSION; DISEASE;
D O I
10.1111/bjd.14807
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:249 / 251
页数:3
相关论文
共 50 条
  • [1] Predictive phenotyping of inherited ichthyosis by next generation DNA sequencing
    Saito, R.
    Boyce, A.
    Hsu, C.
    Rashidghamat, E.
    Mellerio, J.
    Hide, M.
    John, M. A.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (09) : S187 - S187
  • [2] Next-Generation Sequencing Demands Next-Generation Phenotyping
    Hennekam, Raoul C. M.
    Biesecker, Leslie G.
    [J]. HUMAN MUTATION, 2012, 33 (05) : 884 - 886
  • [3] Next-generation DNA sequencing
    Shendure, Jay
    Ji, Hanlee
    [J]. NATURE BIOTECHNOLOGY, 2008, 26 (10) : 1135 - 1145
  • [4] Next-generation DNA sequencing
    Jay Shendure
    Hanlee Ji
    [J]. Nature Biotechnology, 2008, 26 : 1135 - 1145
  • [5] Inherited Cancer in the Age of Next-Generation Sequencing
    Price, Kristin S.
    Svenson, Ashley
    King, Elisabeth
    Ready, Kaylene
    Lazarin, Gabriel A.
    [J]. BIOLOGICAL RESEARCH FOR NURSING, 2018, 20 (02) : 192 - 204
  • [6] Value of next-generation sequencing in inherited arrhythmia syndromes
    Min Jae Kim
    You Ri Kim
    Ki Hong Lee
    Namsik Yoon
    Hyung Wook Park
    [J]. International Journal of Arrhythmia, 24 (1)
  • [7] Next-Generation Sequencing Applications for Inherited Retinal Diseases
    Dockery, Adrian
    Whelan, Laura
    Humphries, Pete
    Farrar, G. Jane
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (11)
  • [8] A Next-Generation Sequencing Approach to Investigating Inherited Thrombophilias
    Spears, Michael
    Onsongo, Getiria
    Silverstein, Kevin
    Beckman, Kenneth
    Schomaker, Matthew
    Yohe, Sophia
    Bower, Matthew
    Hansen, Kerry
    Kreuziger, Lisa Baumann
    Reding, Mark
    Thyagarajan, Bharat
    [J]. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2013, 140 (03) : 423 - 424
  • [9] Next-generation DNA sequencing methods
    Mardis, Elaine R.
    [J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2008, 9 : 387 - 402
  • [10] Next-generation DNA damage sequencing
    Mingard, Cecile
    Wu, Junzhou
    McKeague, Maureen
    Sturla, Shana J.
    [J]. CHEMICAL SOCIETY REVIEWS, 2020, 49 (20) : 7354 - 7377