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

Limitations of PICADAR as a diagnostic predictive tool for primary ciliary dyskinesia

PICADAR作为原发性纤毛运动障碍诊断预测工具的局限性

Schramm, Andre; Raidt, Johanna; Riepenhausen, Sarah; Nygaard, Caroline Marie Torp; Tenardi-Wenge, Retno; Qvist, Tavs; Witt, Pernille; Storck, Michael; Olbrich, Heike; Nielsen, Kim Gjerum; Omran, Heymut

International consensus statement on routine blood testing in primary ciliary dyskinesia

关于原发性纤毛运动障碍常规血液检测的国际共识声明

Altaraihi, Sarah; Marthin, June K; Anagnostopoulou, Pinelopi; Boon, Mieke; Carr, Siobhan B; Castillo-Corullón, Silvia; Dehlink, Eleonora; Destouches, Damien M S; Duckers, Jamie; Haarman, Eric G; Karadag, Bülent; Kavouridou, Christina; Loebinger, Michael R; Maitre, Bernard; Mazurek, Henryk; Morgan, Lucy; Omran, Heymut; Ozcelik, Ugur; Peckam, Daniel; Pifferi, Massimo; Pohunek, Petr; Qvist, Tavs; Raidt, Johanna; Reix, Phillipe; Ringshausen, Felix C; Robinson, Phil; Robson, Evie; Röhmel, Jobst; Santamaria, Francesca; Schlegtendal, Anne; Ullmann, Nicola; Walker, Woolf; Yiallouros, Panayiotis; Thouvenin, Guillaume; Crowley, Suzanne; Nielsen, Kim G

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey

罕见病和低发病率疾病中与妊娠相关的问题:ERN妊娠和计划生育横向工作组调查结果

Zucchi, Dina; Marinello, Diana; Tani, Chiara; Fulvio, Giovanni; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Borgards, Petra; Boiteux, Marie-Claude; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, Joao E; Fredi, Micaela; Iotova, Violeta; Louisse, Simone; Nalli, Cecilia; Onali, Michela; Power, Beverley; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; Vieira, Ana; Capela, Susana; Dan, Dorica; De Backer, Julie; de Die-Smulders, Christine; Dufke, Andreas; Artzner, Estelle Lecointe; Limongelli, Giuseppe; Lorenz, Birgit; Papenthin, Wiebke; Pascau, María Jesús; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Röhl, Claas; Schneider, Holm; Yap, Tet; Talarico, Rosaria; Mosca, Marta

[Physiotherapy in Primary Ciliary Dyskinesia]

[原发性纤毛运动障碍的物理治疗]

Krämer, Christina; Flock, Jasmin; Borges-Lüke, Birgit; Raidt, Johanna; Ringshausen, Felix C

Use of Andexanet Alfa to Reverse Heparin After Cardiopulmonary Bypass

体外循环后使用安德沙奈特α逆转肝素作用

Niehaus, David; Javorski, Michael; Kay, Elliot; Rhoades, Abigail; Raidt, Hilary; Dowling, Rob

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey

解决罕见病和低发病率疾病患者在孕期和计划生育方面未满足的需求:ERN 孕期和计划生育横向工作组调查结果

Fulvio, Giovanni; Marinello, Diana; Zucchi, Dina; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Boiteux, Marie-Claude; Borgards, Petra; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, João E; Fredi, Micaela; Guimarães, Vera; Iotova, Violeta; Lecointe-Artzner, Estelle; Lopes, Ana Rita; Louisse, Simone; Nalli, Cecilia; Olesinska, Marzena; Onali, Michela; Papenthin, Wiebke; Power, Beverley; Röhl, Claas; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; van Vleuten, Carine Jm der; Vieira, Ana; Dan, Dorica; Backer, Julie De; Smulders, Christina de Die; Dufke, Andreas; Frank, Charissa; Limongelli, Giuseppe; Lorenz, Birgit; Kilpiäinen, Elisa; Pascau, María Jesús; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Schneider, Holm; Van Pal, Helena J der; Yap, Tet; Talarico, Rosaria; Tani, Chiara; Mosca, Marta

A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance

30%至62%的功能性多纤毛气道细胞足以维持纤毛气道清除功能。

Loges, Niki T; Marthin, June Kehlet; Raidt, Johanna; Olbrich, Heike; Höben, Inga M; Cindric, Sandra; Bracht, Diana; König, Julia; Rieck, Cynthia; George, Sebastian; Kloth, Tim Luis; Wohlgemuth, Kai; Pennekamp, Petra; Dworniczak, Bernd; Holgersen, Mathias G; Römel, Jobst; Schmalstieg, Christian; Aprea, Isabella; Mortensen, Jann; Nielsen, Kim G; Omran, Heymut

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

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus

CFAP46、CFAP54、CFAP74 和 CFAP221 的致病性变异会导致原发性纤毛运动障碍,并伴有中央装置 C1d 投射缺陷。

Wohlgemuth, Kai; Hoersting, Niklas; Koenig, Julia; Loges, Niki Tomas; Raidt, Johanna; George, Sebastian; Cindrić, Sandra; Schramm, Andre; Biebach, Luisa; Lay, Simon; Dougherty, Gerard W; Olbrich, Heike; Pennekamp, Petra; Dworniczak, Bernd; Omran, Heymut

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis

隐性遗传的分泌型WFDC2(HE4)缺乏症会导致鼻息肉和支气管扩张

Dougherty, Gerard W; Ostrowski, Lawrence E; Nöthe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R; Dang, Hong; Smith, Amanda J; Beule, Achim G; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G; Maas, Saskia M; Ferkol, Thomas W; Noone, Peadar G; Olivier, Kenneth N; Bracht, Diana C; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; König, Julia; George, Sebastian; Loges, Niki T; Ceppe, Agathe; Markovetz, Matthew R; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B; Pang, Yuan-Ping; Knowles, Michael R; Zariwala, Maimoona A; Omran, Heymut