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

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt

埃及原发性纤毛运动障碍疑似患儿的临床、表型和基因型相关性研究

Rizk, Hoda; Hjeij, Rim; Al-Haggar, Mohammad; Dworniczak, Bernd; Otto, Dominik; Olbrich, Heike; Osman, Engy; Omran, Heymut; Eldesoky, Tarek

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

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

原发性纤毛运动障碍相关致病变异(CCDC39 和 CCDC40)导致轴丝内动力蛋白臂重链 DNAH1、DNAH6 和 DNAH7 缺失。

Wilken, Alina; Höben, Inga Marlena; Wolter, Alexander; Loges, Niki Tomas; Olbrich, Heike; Aprea, Isabella; Dworniczak, Bernd; Raidt, Johanna; Omran, Heymut

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

MNS1 中的双等位基因变异与侧向性缺陷和呼吸系统受累相关

Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer

一项多中心真实世界研究比较了全自动 Idylla™ 微卫星不稳定性检测方法与常规分子方法和免疫组织化学方法在福尔马林固定石蜡包埋的结直肠癌组织中的应用。

Velasco, Ana; Tokat, Fatma; Bonde, Jesper; Trim, Nicola; Bauer, Elisabeth; Meeney, Adam; de Leng, Wendy; Chong, George; Dalstein, Véronique; Kis, Lorand L; Lorentzen, Jon A; Tomić, Snjezana; Thwaites, Keeley; Putzová, Martina; Birnbaum, Astrid; Qazi, Romena; Primmer, Vanessa; Dockhorn-Dworniczak, Barbara; Hernández-Losa, Javier; Soares, Fernando A; Gertler, Asaf A; Kalman, Michal; Wong, Chris; Carraro, Dirce M; Sousa, Ana C; Reis, Rui M; Fox, Stephen B; Fassan, Matteo; Brevet, Marie; Merkelbach-Bruse, Sabine; Colling, Richard; Soilleux, Elizabeth; Teo, Ryan Yee Wei; D'Haene, Nicky; Nolet, Serge; Ristimäki, Ari; Väisänen, Timo; Chapusot, Caroline; Soruri, Afsaneh; Unger, Tina; Wecgowiec, Johanna; Biscuola, Michele; Frattini, Milo; Long, Anna; Campregher, Paulo V; Matias-Guiu, Xavier

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

BRCA1和BRCA2基因组结构域与前列腺癌风险和侵袭性的关联

Patel, Vivek L; Busch, Evan L; Friebel, Tara M; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Birgitte; Blok, Marinus J; Bodrogi, Istvan; Bonadona, Valérie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E; Borde, Julika; Borg, Ake; Bradbury, Angela R; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S; Cabezas-Camarero, Santiago; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Campbell, Ian G; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L; Chu, Annie T W; Chung, Wendy K; Claes, Kathleen B M; Collaborators, Gemo Study; Collaborators, Embrace; Cook, Jackie; Cortesi, Laura; Couch, Fergus J; Daly, Mary B; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Puppa, Lara Della; Dennis, Joe; Díez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Donaldson, Alan; Dworniczak, Bernd; Easton, Douglas F; Eccles, Diana M; Eeles, Rosalind A; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Faust, Ulrike; Feliubadaló, Lídia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; García-Barberán, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Géczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gutierrez-Barrera, Angelica M; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B L; Honisch, Ellen; Hopper, John L; Hulick, Peter J; Investigators, KConFab; Investigators, Hebon; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernández, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T; Ma, Edmond S K; Mai, Phuong L; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Miller, Clare; Gomes, Denise Molina; Montagna, Marco; Mooij, Thea M; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn C Cilius; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Pérez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth Høgh; Porteous, Mary E; Pujana, Miguel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E; Rookus, Matti A; Rossing, Caroline M; Ruddy, Kathryn J; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K; Schuster, Hélène; Senter, Leigha; Seynaeve, Caroline M; Shah, Payal D; Sharma, Priyanka; Shin, Vivian Y; Silvestri, Valentina; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R; Soucy, Penny; Southey, Melissa C; Spurdle, Amanda B; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Baan, Frederieke H; van der Kolk, Lizet E; van der Luijt, Rob B; van Hest, Liselotte P; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstraete, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K; D'Amico, Anthony V; Freedman, Matthew L; Pomerantz, Mark M; Chenevix-Trench, Georgia; Antoniou, Antonis C; Neuhausen, Susan L; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R

Molecular Routes to Specific Identification of the Lactobacillus Casei Group at the Species, Subspecies and Strain Level

在种、亚种和菌株水平上特异性鉴定干酪乳杆菌群的分子途径

Piotr Jarocki, Elwira Komoń-Janczara, Agnieszka Glibowska, Michał Dworniczak, Monika Pytka, Agnieszka Korzeniowska-Kowal, Anna Wzorek, Monika Kordowska-Wiater

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice

左右不对称和先天性心脏缺陷的随机化:DNAH5 在人类和小鼠中的作用

Nöthe-Menchen, Tabea; Wallmeier, Julia; Pennekamp, Petra; Höben, Inga M; Olbrich, Heike; Loges, Niki T; Raidt, Johanna; Dougherty, Gerard W; Hjeij, Rim; Dworniczak, Bernd; Omran, Heymut