日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Primary ciliary dyskinesia: a national expert consensus statement on standards of care

原发性纤毛运动障碍:国家专家共识护理标准声明

Robson, Evie A; Spoletini, Giulia; Bercusson, Amelia; Carr, Siobhan B; Carroll, Mary; Dexter, Katie; Dixon, Lucy; Hogg, Claire; Jones, Andrew; Kenia, Priti; Loebinger, Michael; Lucas, Jane S; Moya, Eduardo; O'Callaghan, Christopher; Patel, Deepa; Peckham, Daniel G; Range, Simon; Walker, Woolf T

Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort

原发性纤毛运动障碍患者肺功能的自然变异性:来自 PROVALF-PCD 队列的纵向分析

Zhang, Kewei; Kant, Avni; Boon, Mieke; Borrelli, Melissa; Constant, Carolina; Castillo Corullon, Silvia; Cutrera, Renato; Dillenhöfer, Stefanie; Eryılmaz Polat, Sanem; Eralp, Ela; Feyaerts, Nathalie; Harris, Amanda; Hogg, Claire; Koerner-Rettberg, Cordula; Kouis, Panayiotis; Lombardi, Enrico; Lorent, Natalie; Marthin, June K; Martinu, Vendula; Moreno-Galdo, Antonio; Morgan, Lucy; Nielsen, Kim; Omran, Heymut; Ozcelik, Ugur; Pohunek, Petr; Robinson, Phil; Rovira-Amigo, Sandra; Santamaria, Francesca; Schlegtendal, Anne; Tamalet, Aline; Thouvenin, Guillaume; Ademhan Tural, Dilber; Ullmann, Nicola; Walker, Woolf T; Yiallouros, Panayiotis; Pearse, Camille; Frauchiger, Bettina; Kuehni, Claudia E; Beydon, Nicole; Latzin, Philipp; Lucas, Jane S; Rubbo, Bruna

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis

利用气道上皮转录组分析提升罕见呼吸系统疾病的基因诊断水平

Legebeke, Jelmer; Wheway, Gabrielle; Baker, Lee; Wai, Htoo A; Walker, Woolf T; Thomas, N Simon; Coles, Janice; Jackson, Claire L; Holloway, John W; Lucas, Jane S; Baralle, Diana

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations

对 1236 名已进行基因分型的原发性纤毛运动障碍患者的分析,发现了不同 DNA 变异的区域性聚集以及显著的基因型-表型相关性。

Raidt, Johanna; Riepenhausen, Sarah; Pennekamp, Petra; Olbrich, Heike; Amirav, Israel; Athanazio, Rodrigo A; Aviram, Micha; Balinotti, Juan E; Bar-On, Ophir; Bode, Sebastian F N; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioğlu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Große-Onnebrink, Jörg; Gwozdziewicz, Karolina; Haarman, Eric G; Hansen, Christine R; Hogg, Claire; Holgersen, Mathias G; Kerem, Eitan; Körner, Robert W; Kötz, Karsten; Kouis, Panayiotis; Loebinger, Michael R; Lorent, Natalie; Lucas, Jane S; Maj, Debora; Mall, Marcus A; Marthin, June K; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M; Nöthe-Menchen, Tabea; Özçelik, Ugur; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C; Roehmel, Jobst F; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Sperstad Kennelly, Synne; Staar, Ben O; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Varghese, Julian; von Hardenberg, Sandra; Walker, Woolf T; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zschocke, Anna; Ziętkiewicz, Ewa; Nielsen, Kim G; Omran, Heymut

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

巴勒斯坦原发性纤毛运动障碍人群:诊断和遗传谱的初步结果

Rumman, Nisreen; Fassad, Mahmoud R; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Albakri, Mutaz; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M; Hasaballah, Abdallah; Jackson, Claire L; Mohamed, Mai A; Abu Nema, Reda; Patel, Mitali P; Pengelly, Reuben J; Qaaqour, Ahmad; Rubbo, Bruna; Thomas, N Simon; Thompson, James; Walker, Woolf T; Wheway, Gabrielle; Mitchison, Hannah M; Lucas, Jane S

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

利用基因组测序寻找隐匿的二次突变:对参与“十万基因组计划”的31例病例的分析

Moore, A Rachel; Yu, Jing; Pei, Yang; Cheng, Emily W Y; Taylor Tavares, Ana Lisa; Walker, Woolf T; Thomas, N Simon; Kamath, Arveen; Ibitoye, Rita; Josifova, Dragana; Wilsdon, Anna; Ross, Alison; Calder, Alistair D; Offiah, Amaka C; Wilkie, Andrew O M; Taylor, Jenny C; Pagnamenta, Alistair T

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome

CEP164基因的双等位基因变异会导致一种类似运动性纤毛病的综合征。

Devlin, Laura A; Coles, Janice; Jackson, Claire L; Barroso-Gil, Miguel; Green, Ben; Walker, Woolf T; Thomas, N Simon; Thompson, James; Rock, Simon A; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J; Cordell, Heather J; Olinger, Eric; Miles, Colin G; Sayer, John A; Wheway, Gabrielle; Lucas, Jane S

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

原发性纤毛运动障碍疾病特异性临床试验网络:PCD-CTN

Raidt, Johanna; Maitre, Bernard; Pennekamp, Petra; Altenburg, Josje; Anagnostopoulou, Pinelopi; Armengot, Miguel; Bloemsma, Lizan D; Boon, Mieke; Borrelli, Melissa; Brinkmann, Folke; Carr, Siobhan B; Carroll, Mary P; Castillo-Corullón, Silvia; Coste, André; Cutrera, Renato; Dehlink, Eleonora; Destouches, Damien M S; Di Cicco, Maria E; Dixon, Lucy; Emiralioglu, Nagehan; Erdem Eralp, Ela; Haarman, Eric G; Hogg, Claire; Karadag, Bulent; Kobbernagel, Helene E; Lorent, Natalie; Mall, Marcus A; Marthin, June K; Martinu, Vendula; Narayanan, Manjith; Ozcelik, Ugur; Peckham, Daniel; Pifferi, Massimo; Pohunek, Petr; Polverino, Eva; Range, Simon; Ringshausen, Felix C; Robson, Evie; Roehmel, Jobst; Rovira-Amigo, Sandra; Santamaria, Francesca; Schlegtendal, Anne; Szépfalusi, Zsolt; Tempels, Petra; Thouvenin, Guillaume; Ullmann, Nicola; Walker, Woolf T; Wetzke, Martin; Yiallouros, Panayiotis; Omran, Heymut; Nielsen, Kim G

International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives

国际BEAT-PCD共识声明:原发性纤毛运动障碍感染预防与控制,由ERN-LUNG PCD核心网络和患者代表共同制定。

Marthin, June K; Lucas, Jane S; Boon, Mieke; Casaulta, Carmen; Crowley, Suzanne; Destouches, Damien M S; Eber, Ernst; Escribano, Amparo; Haarman, Eric; Hogg, Claire; Maitre, Bernard; Marsh, Gemma; Martinu, Vendula; Moreno-Galdó, Antonio; Mussaffi, Huda; Omran, Heymut; Pohunek, Petr; Rindlisbacher, Bernhard; Robinson, Phil; Snijders, Deborah; Walker, Woolf T; Yiallouros, Panayiotis; Johansen, Helle Krogh; Nielsen, Kim G

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

全基因组测序在原发性纤毛运动障碍诊断中的应用

Gabrielle Wheway #,N Simon Thomas # ,Mary Carroll ,Janice Coles ,Regan Doherty      ; Genomics England Research Consortium; Patricia Goggin ,Ben Green,Amanda Harris ,David Hunt,Claire L Jackson ,Jenny Lord ,Vito Mennella ,James Thompson ,Woolf T Walker ,Jane S Lucas