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Designing a children's health exposomics study protocol: The CHILDREN_FIRST multi-country prospective cohort using multi-omics and personalized prevention approaches 设计儿童健康暴露组学研究方案：CHILDREN_FIRST多国前瞻性队列研究采用多组学和个性化预防方法 Konstantinou, Corina; Soursou, Georgia; Abimbola, Samuel; Charisiadis, Pantelis; Kyriacou, Angelos; Modestou, Theofano; Tornaritis, Michalis; Hadjigeorgiou, Charalambos; Agapiou, Agapios; Elia, Efstathios A.; Milis, George; Kyriacou, Alexis; Eleftheriou, Lygia; Tsimtsiou, Zoi; Natsiavas, Pantelis; Duek, Or; Menashe, Idan; Bilenko, Nathalia; Grotto, Itamar; Mechili, Enkeleint A.; Guxens, Monica; Christophi, Costas A.; Deltas, Constantinos; Makris, Konstantinos C. 分享 收藏
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Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study 来自48个国家的儿童和青少年的家族性高胆固醇血症: 一项横断面研究 Dharmayat, Kanika Inamdar; Vallejo-Vaz, Antonio J.; Stevens, Christophe A. T.; Brandts, Julia M.; Lyons, Alexander R. M.; Groselj, Urh; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Ashavaid, Tester F.; Banach, Maciej; Beliard, Sophie; Binder, Christoph; Bourbon, Mafalda; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Descamps, Olivier S.; Drogari, Euridiki; Durst, Ronen; Ezhov, Marat, V; Genest, Jacques; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Khovidhunkit, Weerapan; Lalic, Katarina; Laufs, Ulrich; Liberopoulos, Evangelos; Lennep, Jeanine Roeters van; Lima-Martinez, Marcos Miguel; Lin, Jie; Maher, Vincent; Maerz, Winfried; Miserez, Andre R.; Mitchenko, Olena; Nawawi, Hapizah; Panayiotou, Andrie G.; Paragh, Gyoergy; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Zeljko; Reyes, Ximena; Sadiq, Fouzia; Sahebkar, Amirhossein; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Eric; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey; Cardenas, Alejandra Vazquez; Truong, Thanh Huong; Tselepis, Alexandros; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Al-Sarraf, Ahmad; Al-Sayed, Nasreen; Davletov, Kairat; Dwiputra, Bambang; Gaita, Dan; Kayikcioglu, Meral; Latkovskis, Gustavs; Marais, A. David; Matthias, Anne Thushara; Mirrakhimov, Erkin; Nordestgaard, Borge G.; Petrulioniene, Zaneta; Pojskic, Belma; Sadoh, Wilson; Tilney, Myra; Tomlinson, Brian; Tybjaerg-Hansen, Anne; Viigimaa, Margus; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Soran, Handrean; Raal, Frederick; Watts, Gerald F.; Schreier, Laura; Banares, Virginia; Greber-Platzer, Susanne; Baumgartner-Kaut, Margot; de Gier, Charlotte; Dieplinger, Hans; Hoellerl, Florian; Innerhofer, Reinhold; Karall, Daniela; Lischka, Julia; Ludvik, Bernhard; Maeser, Martin; Scholl-Buergi, Sabine; Thajer, Alexandra; Toplak, Hermann; Demeure, Fabian; Mertens, Ann; Balligand, Jean-Luc; Stephenne, Xavier; Sokal, Etienne; Petrov, Ivo; Goudev, Assen; Nikolov, Fedya; Tisheva, Snejana; Yotov, Yoto; Tzvetkov, Ivajlo; Hegele, Robert A.; Gaudet, Daniel; Brunham, Liam; Ruel, Isabelle; Mccrindle, Brian; Cuevas, Ada; Perica, Drazen; Symeonides, Phivos; Trogkanis, Efstratios; Kostis, Andreas; Ioannou, Andreas; Mouzarou, Angeliki; Georgiou, Anthoula; Stylianou, Andreas; Miltiadous, George; Iacovides, Paris; Deltas, Constantinos; Vrablik, Michal; Urbanova, Zuzana; Jesina, Pavel; Tichy, Lukas; Hyanek, Josef; Dvorakova, Jana; Cepova, Jana; Sykora, Josef; Buresova, Kristyna; Pipek, Michal; Pistkova, Eva; Bartkova, Ivana; Ulakova, Astrid S.; Toukalkova, Lenka; Spenerova, Michaela; Maly, Jan; Benn, Marianne; Bendary, Ahmed; Elbahry, Atef; Ferrieres, Jean; Ferrieres, Dorota; Peretti, Noel; Bruckert, Eric; Gallo, Antonio; Valero, Rene; Mourre, Florian; Aouchiche, Karine; Reynaud, Rachel; Tounian, Patrick; Lemale, Julie; Boccara, Franck; Moulin, Philippe; Charrieres, Sybil; Di Filippo, Mathilde; Cariou, Bertrand; Paillard, Francois; Dourmap, Caroline; Pradignac, Alain; Verges, Bruno; Simoneau, Isabelle; Farnier, Michel; Cottin, Yves; Yelnik, Cecile; Hankard, Regis; Schiele, Francois; Durlach, Vincent; Sultan, Ariane; Carrie, Alain; Rabes, Jean-Pierre; Sanin, Veronika; Schmieder, Roland; Ates, Sara; Rizos, Christos, V; Skoumas, Ioannis; Tziomalos, Konstantinos; Rallidis, Loukianos; Kotsis, Vasileios; Doumas, Michalis; Skalidis, Emmanouil; Kolovou, Genovefa; Kolovou, Vana; Garoufi, Anastasia; Koutagiar, Iosif; Polychronopoulos, Georgios; Kiouri, Estela; Antza, Christina; Zacharis, Evangelos; Attilakos, Achilleas; Sfikas, George; Koumaras, Charalambos; Anagnostis, Panagiotis; Anastasiou, Georgia; Liamis, George 分享 收藏
Genomic Classifiers in Personalized Prostate Cancer Radiation Therapy Approaches: A Systematic Review and Future Perspectives Based on International Consensus Spohn, Simon K. B.; Draulans, Cederic; Kishan, Amar U.; Spratt, Daniel; Ross, Ashley; Maurer, Tobias; Tilki, Derya; Berlin, Alejandro; Blanchard, Pierre; Collins, Sean; Bronsert, Peter; Chen, Ronald; Dal Pra, Alan; de Meerleer, Gert; Eade, Thomas; Haustermans, Karin; Holscher, Tobias; Hocht, Stefan; Ghadjar, Pirus; Davicioni, Elai; Heck, Matthias; Kerkmeijer, Linda G. W.; Kirste, Simon; Tselis, Nikolaos; Tran, Phuoc T.; Pinkawa, Michael; Pommier, Pascal; Deltas, Constantinos; Schmidt-Hegemann, Nina-Sophie; Wiegel, Thomas; Zilli, Thomas; Tree, Alison C.; Qiu, Xuefeng; Murthy, Vedang; Epstein, Jonathan I.; Graztke, Christian; Gao, Xin; Grosu, Anca L.; Kamran, Sophia C.; Zamboglou, Constantinos 分享 收藏
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021) Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏
The 2019 and 2021 International workshops on Alport syndrome (vol 30, 507, 2022) Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Zietkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanovic, Danica Galesic; Lennon, Rachel; Weinstock, Andre B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra 分享 收藏
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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome Palles, Claire; West, Hannah D.; Chew, Edward; Galavotti, Sara; Flensburg, Christoffer; Grolleman, Judith E.; Jansen, Erik A. M.; Curley, Helen; Chegwidden, Laura; Arbe-Barnes, Edward H.; Lander, Nicola; Truscott, Rebekah; Pagan, Judith; Bajel, Ashish; Sherwood, Kitty; Martin, Lynn; Thomas, Huw; Georgiou, Demetra; Fostira, Florentia; Goldberg, Yael; Adams, David J.; van der Biezen, Simone A. M.; Christie, Michael; Clendenning, Mark; Thomas, Laura E.; Deltas, Constantinos; Dimovski, Aleksandar J.; Dymerska, Dagmara; Lubinski, Jan; Mahmood, Khalid; van der Post, Rachel S.; Sanders, Mathijs; Weitz, Jurgen; Taylor, Jenny C.; Turnbull, Clare; Vreede, Lilian; van Wezel, Tom; Whalley, Celina; Arnedo-Pac, Claudia; Caravagna, Giulio; Cross, William; Chubb, Daniel; Frangou, Anna; Gruber, Andreas J.; Kinnersley, Ben; Noyvert, Boris; Church, David; Graham, Trevor; Houlston, Richard; Lopez-Bigas, Nuria; Sottoriva, Andrea; Wedge, David; Jenkins, Mark A.; Kuiper, Roland P.; Roberts, Andrew W.; Cheadle, Jeremy P.; Ligtenberg, Marjolijn J. L.; Hoogerbrugge, Nicoline; Koelzer, Viktor H.; Rivas, Andres Dacal; Winship, Ingrid M.; Ponte, Clara Ruiz; Buchanan, Daniel D.; Power, Derek G.; Green, Andrew; Tomlinson, Ian P. M.; Sampson, Julian R.; Majewski, Ian J.; de Voer, Richarda M. 分享 收藏
The 2019 and 2021 International Workshops on Alport Syndrome Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Zietkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanovic, Danica Galesic; Lennon, Rachel; Weinstock, Andre B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra 分享 收藏
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome Gibson, Joel T.; Huang, Mary; Dabrera, Marina Shenelli Croos; Shukla, Krushnam; Rothe, Hansjorg; Hilbert, Pascale; Deltas, Constantinos; Storey, Helen; Lipska-Zietkiewicz, Beata S.; Chan, Melanie M. Y.; Sadeghi-Alavijeh, Omid; Gale, Daniel P.; Cerkauskaite, Agne; Savige, Judy 分享 收藏
Circulating IgG Levels in SARS-CoV-2 Convalescent Individuals in Cyprus Mamais, Ioannis; Malatras, Apostolos; Papagregoriou, Gregory; Giallourou, Natasa; Kakouri, Andrea C.; Karayiannis, Peter; Koliou, Maria; Christaki, Eirini; Nikolopoulos, Georgios K.; Deltas, Constantinos 分享 收藏
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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife Zurowska, Aleksandra M.; Bielska, Olga; Daca-Roszak, Patrycja; Jankowski, Maciej; Szczepanska, Maria; Roszkowska-Bjanid, Dagmara; Kuzma-Mroczkowska, Elzbieta; Panczyk-Tomaszewska, Malgorzata; Moczulska, Anna; Drozdz, Dorota; Hadjipanagi, Despina; Deltas, Constantinos; Ostalska-Nowicka, Danuta; Rabiega, Alina; Taraszkiewicz, Janina; Taranta-Janusz, Katarzyna; Wieczorkiewicz-Plaza, Anna; Jobs, Katarzyna; Mews, Judyta; Musial, Kinga; Jakubowska, Anna; Nosek, Hanna; Jander, Anna E.; Koutsofti, Constantina; Stanislawska-Sachadyn, Anna; Kuleszo, Dominka; Zietkiewicz, Ewa; Lipska-Zietkiewicz, Beata S. 分享 收藏
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. 分享 收藏
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Ines; Belge, Hendrica; Schaeffer, Celine; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G.; Gale, Daniel P.; Goffin, Eric; Hodanova, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A.; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivna, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J., Sr.; Devuyst, Olivier 分享 收藏
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