Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

被引：0
|
作者：
Shoemark, A. [1 ,2 ]
Griffin, H. [3 ]
Wheway, G. [4 ]
Hogg, C. [5 ]
Lucas, J. S. [4 ]
Camps, C. [6 ]
Taylor, J. [6 ]
Carroll, M. [4 ]
Loebinger, M. R. [5 ]
Chalmers, J. D. [1 ]
Morris-Rosendahl, D. [5 ]
Mitchison, H. M. [7 ]
De Soyza, A. [3 ]
机构：
[1] Univ Dundee, Dundee, Angus, Scotland
[2] Royal Brompton Hosp, Dundee, Angus, Scotland
[3] Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
[4] Univ Southampton, Southampton, Hants, England
[5] Royal Brompton Hosp, London, England
[6] Univ Oxford, Oxford, England
[7] UCL, London, England
来源：
EUROPEAN RESPIRATORY JOURNAL | 2022年 / 60卷
关键词：
D O I：
10.1183/13993003.congress-2022.1555
中图分类号：
R56 [呼吸系及胸部疾病];
学科分类号：
摘要：
1555
引用
收藏
页数：2
相关论文
共 50 条
  • [21] Mucociliary clearance scan to evaluate primary ciliary dyskinesia in children with bronchiectasis
    Shammas, Amer
    Charron, Martin
    Dell, Sharon
    JOURNAL OF NUCLEAR MEDICINE, 2011, 52
  • [22] Airways Mucus Proteome Reveals Unique and Common Pathways in Non-CF Bronchiectasis and Primary Ciliary Dyskinesia
    Radicioni, G.
    Ramsey, K. A.
    McGuckin, M.
    Knowles, M. R.
    Boucher, R. C.
    Kesimer, M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2018, 197
  • [23] Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population
    Morris-Rosendahl, Deborah J.
    PEDIATRIC PULMONOLOGY, 2023, 58 (09) : 2437 - 2438
  • [24] Primary ciliary dyskinesia:: a genome-wide linkage analysis reveals extensive locus heterogeneity
    Blouin, JL
    Meeks, M
    Radhakrishna, U
    Sainsbury, A
    Gehring, C
    Saïl, GD
    Bartoloni, L
    Dombi, V
    O'Rawe, A
    Walne, A
    Chung, E
    Afzelius, BA
    Armengot, M
    Jorissen, M
    Schidlow, DV
    van Maldergem, L
    Walt, H
    Gardiner, RM
    Probst, D
    Guerne, PA
    Delozier-Blanchet, CD
    Antonarakis, SE
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (02) : 109 - 118
  • [25] Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
    J-L Blouin
    M Meeks
    U Radhakrishna
    AJ Sainsbury
    C Gehring
    G Duriaux Saïl
    L Bartoloni
    V Dombi
    A O'Rawe
    A Walne
    E Chung
    BA Afzelius
    M Armengot
    M Jorissen
    DV Schidlow
    L van Maldergem
    H Walt
    RM Gardiner
    D Probst
    P-A Guerne
    CD Delozier-Blanchet
    SE Antonarakis
    European Journal of Human Genetics, 2000, 8 : 109 - 118
  • [26] The prevalence of primary ciliary dyskinesia (PCD) in adult patients with bronchiectasis in Dnipro (Ukraine)
    Suska, Kseniia
    Gashynova, Kateryna
    Dmytrychenko, Valeriia
    EUROPEAN RESPIRATORY JOURNAL, 2021, 58
  • [27] Severity of Bronchiectasis and Lung Functions Related with the Genotype of Primary Ciliary Dyskinesia Patients
    Emiralioglu, Nagehan
    Oguz, Berna
    Ozsezen, Beste
    Ademhan, Dilber
    Sunman, Birce
    Yalcin, Ebru
    Kiper, Nural
    Ozcelik, Ugur
    EUROPEAN RESPIRATORY JOURNAL, 2020, 56
  • [28] Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis
    Contarini, Martina
    Shoemark, Amelia
    Rademacher, Jessica
    Finch, Simon
    Gramegna, Andrea
    Gaffuri, Michele
    Roncoroni, Luca
    Seia, Manuela
    Ringshausen, Felix C.
    Welte, Tobias
    Blasi, Francesco
    Aliberti, Stefano
    Chalmers, James D.
    MULTIDISCIPLINARY RESPIRATORY MEDICINE, 2018, 13
  • [29] Whole Exome Sequencing Accuracy in the Diagnosis of Primary Ciliary Dyskinesia
    Gileles-Hillel, A.
    Shoseyov, D.
    Reiter, J.
    Tsabari, R.
    Cohen-Cymberknoh, M.
    Shaked, H. Mor
    Amirav, I.
    Kerem, E.
    Breuer, O.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2020, 201
  • [30] Adult bronchiectasis as diagnosis of hereditary ciliary dyskinesia
    Hazouard, E
    Segalen, J
    Belleguic, C
    Quinquenel, ML
    Kernec, J
    Diot, P
    Delaval, P
    REVUE DES MALADIES RESPIRATOIRES, 1999, 16 (05) : 839 - 841
12345