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

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

多学科团队讨论对遗传性肺纤维化的影响

Franco, Giovanni; Ba, Ibrahima; Nathan, Nadia; Guerin, Cécile; Lassus, Albane; Kannengiesser, Caroline; Froidure, Antoine; Manali, Effrosyni; Bunel, Vincent; Bonniaud, Philippe; Bouvry, Diane; Debray, Marie Pierre; Juge, Pierre Antoine; Epaud, Ralph; Louvrier, Camille; Plessier, Aurélie; de Fontbrune, Flore Sicre; Wémeau-Stervinou, Lidwine; Adam, Sylvain Marchand; Chabrol, Alexandre; Maurac, Arnaud; Savale, Laurent; Montani, David; Raynal, Caroline; Konyukh, Marina; Mageau, Arthur; Crestani, Bruno; Cottin, Vincent; de Becdelièvre, Alix; Borie, Raphaël

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort

ABCA3 患者的表型-基因型相关性——RespiRare队列研究

Fleury, Manon; Delestrain, Céline; Hadchouel, Alice; Mazenq, Julie; Benhamida, Myriam; Bernard, Anne-Sophie; Borie, Raphaël; Brouard, Jacques; Corvol, Harriet; Cros, Pierrick; Delacourt, Christophe; Desroziers, Tifenn; Dubus, Jean-Christophe; Egron, Carole; Epaud, Ralph; Fayon, Michael; Forgeron, Aude; Giovannini-Chami, Lisa; Marguet, Christophe; Masson-Rouchaud, Alexandra; Petat, Hortense; Renoux, Marie-Catherine; Roditis, Léa; Thumerelle, Caroline; Vigier, Clémentine; L'Herminé, Aurore Coulomb; Pointe, Hubert Ducou le; Fanen, Pascale; Fletcher, Camille; Sileo, Chiara; Berteloot, Laureline; Louvrier, Camille; de Becdelièvre, Alix; Legendre, Marie; Nathan, Nadia

Inheritance of STING mosaicism in two half-siblings

两名同父异母兄弟姐妹遗传了STING嵌合体

de Becdelièvre, Alix; Eveillard, Laurye-Anne; Wolska-Kuśnierz, Beata; Frémond, Marie-Louise

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

一种此前未报道过的NARS1变异导致法国一个家族出现显性远端遗传性运动神经病。

Theuriet, Julian; Marte, Sheila; Isapof, Arnaud; de Becdelièvre, Alix; Konyukh, Marina; Laureano-Figueroa, Stephanie M; Latour, Philippe; Quadrio, Isabelle; Maisonobe, Thierry; Antonellis, Anthony; Stojkovic, Tanya

Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia

突尼斯一名患有遗传性表面活性蛋白B缺乏症的婴儿幸存者的治疗难题

Hamouda, Samia; Trabelsi, Ines; de Becdelièvre, Alix; Boussetta, Khadija

Structure-Based Understanding of ABCA3 Variants

基于结构的ABCA3变异体理解

Onnée, Marion; Fanen, Pascale; Callebaut, Isabelle; de Becdelièvre, Alix

67 CF patients with a declining FEV(1): At risk for acquisition of Burkholderia cepacia complex infection?

67 名 FEV1 下降的 CF 患者:有感染伯克霍尔德菌属细菌复合群的风险吗?

Elborn, J Stuart; Chernyavskaya, A; Simonova, O; Powell, L; Watkinson, J; Rao, N; Watkinson, J; Powell, L; Rao, N; Dagenais, R; Su, V; Cen, R; McCabe, D; Shayle, A; Lock, K; Carson, J; Alexander, L; Bell, J; Sufian, B; Passamano, J; Sopchak, A; Weaver, L; Reed, M; Chidekel, A; Yuen, N; Guthrie, C; Williams, K; Ruseckaite, R; Herdiman, J; Ahern, S; Belkin, R; Carmona, J; Belkin, B; Dowdall, F; Tansinda, A; Donnelly, M; Chandran, S; Bhatnagar, R; Tecklenborg, S; Segurado, R; Fitzpatrick, P; Bhatnagar, R; Tecklenborg, S; Segurado, R; Fitzpatrick, P; Aldous, G; Pinnock, N; Nazareth, D; Walshaw, M; Nazareth, D; Sumner, C; Walshaw, M; Borawska-Kowalczyk, U; Sujecka, A; Mielus, M; Sands, D; Sanderson-Thomas, A; Pickering, N; Saba, T; Jones, S; Smith, L; Ainsworth, K; Warnock, L; Flight, W; Chapman, K; Gates, A; Keyte, R; Egan, H; Mantzios, M; Schwarz, C; Lackner, M; Eschenhagen, P; Nagl, M; Brennan, A; Pickles, J; Punt, S; Taylor, K; Beynon, J; Mittaine, M; Aversenq, E; Milhorat, P; Lannibois, C; 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Almada, P; Sakon, C; Vogt, H; Brown, C; Tillman, E; Manning, D-E; Speight, L; Prosser, A; Duckers, J; Vidoevska, A; Jakovska, T; Momchilovik, S; Arnaudova-Danevska, I; Ginovska-Tasevska, E; Chrysochoou, E-A; Hatziagorou, E; Michailidou, C; Gioulvanidou, M; Galogavrou, M; Tsanakas, J; Warraich, S; Lock, K; Hamilton, C; Selby, L; Cresta, F; Ciprandi, R; Castellani, C; Pescini, R; Casciaro, R; Schiavetti, I; Mala, M; Homola, L; Pokojova, E; Stastna, N; Holcikova, A; Gracova, Z; Spoletini, G; Campbell, C; Etherington, C; Pollard, K; Burke, N; Shimmin, D; Clifton, I; Peckham, D; Lock, K; Lowndes, L; Johnstone, Z; Kozlowska, W; Havermans, T; Seyen, N; Luyckx, K; Vos, R; Dupont, L; Holden, A; Thickett, K; Sammons, L; Bird, K; Fitch, G; MacDuff, N; Lau, D; Speight, L; Melindo, F; Prosser, A; Lee, J; Addy, C; Duckers, J; Ketchell, I; Gordon, R; Barnico, K; Sawicki, G; Harrison, M; Scull, C; Luo, M; Jennings, S; Taylor, C; Wang, G; Vermilyea, D; Hogan, D; Hente, E; Strong, S; Siracusa, C; Hjelm, M; Bowdy, A; Tadesse, D; Hossain, M; Filigno, S; Boat, T; Raissi, G; Patel, N; Casey, R; Corcoran, B; Sadeghi, H; Hergenroeder, G; Cogen, J; Genatossio, A; McNamara, S; Pascual, M; Hernandez, R; Zhang, S; Robledo, F; Shrestha, C; Wisniewski, B; Brown, N; Carey, K; Pham, H; Partida-Sanchez, S; Kopp, B; Chen, P; Finklea, D; Cohen, L; Jain, R; Lowe, K; Ratti, G; Becker, J; Reisch, J; Rosenfeld, M; Ostrenga, J; Cromwell, E; Fink, A; Szczesniak, R; Magaret, A; Sanders, D; Scott, R; McCreery-Cullifer, B; Muldowney, K; Stocks, A; Kaider, A; Mahan, K; Billings, J; Kiel, S; Sultan, S; Dunitz, J; Noren, B; Bailey, M; Yun, K; Elson, E; Meier, E; Capel, P; Haynes, J; Fischer, M; Duehlmeyer, S; Oermann, C; Holzum, H; Nelson, K; Granneman, J; Acton, J; Nevel, R; Guthrie, C; Sadler, T; Wadle, C; Dohanich, E; Couch, L; Srinivasan, S; Brown, R; Ledbetter, J; Quintero, D; Sala, M; Markov, N; Misharin, A; Jain, M; Filigno, S; Hente, E; Lisa, M; Siracusa, C; Pitcher, N; Zirbes, C; Moustafa, A; Planet, P; Thurman, A; 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Panayi, M; Hameed, MS; Kumar, A; Baker, C; Nazareth, D; Walshaw, M; Scott, E; Ledson, M; Walshaw, M; Kondratyeva, E; Gorelov, A; Zhekaite, E; Nikolaeva, S; Sherman, V; Simonova, O; Gorinova, Y; Boitsova, E; Mukhina, M; Ledneva, V; Mielus, M; Surowiecka, M; Madej, P; Zybert, K; Sands, D; Yilmaz, AI; Ünal, G; Kibar, BS; Sevgi, P; Eĝil, O; Yosunkaya, Ş; Burnett, S; Preidt, M; FitzMaurice, T; Walshaw, M; Nazareth, D; Pickering, N; Saba, T; Atalay, M; Emiralioĝlu, N; Özçelik, U; Yalçın, E; Doĝru, D; Kiper, N; Dayangaç Erden, D; Fitzgerald, S; Lathia, C; Wilson., P; Balanetchi, L; Gudumac, E; Rotaru-Cojocari, D; Selevestru, R; Sciuca, S; Rees, H; Babu, S; Fletcher, G; Kirwan, L; Johnstone, Z; Hyson, J; Dunk, R; Madge, S; Jaudszus, A; Arnold, C; Hentschel, J; Hünniger, K; Baier, M; Mainz, JG; Amado, R; Trejo, J; Romero, D; Cano, A; Barroso, F; Martin-Gomez, T; Stockwell, R; Wood, M; Kidd, T; Johnson, G; He, C; Knibbs, L; Morawska, L; Wainwright, C; Bell, S; Patel, D; Claydon, A; Gaillard, EA; Modha, DE; Dayman, N; Cramer, N; Klockgether, J; Davenport, CF; Tümmler, B; Ciofu, O; Johansen, HK; Wassermann, T; Alhede, M; Høiby, N; Vermeulen, F; Boon, M; Proesmans, M; De Boeck, K; Odobasic Palkovic, T; Milinkovic, T; Markelic, I; Džubur, F; Godic, I; Barbir, I; Tjesic-Drinkovic, D; Vukic-Dugac, A; Connolly, A; Knowles, J; Etumi, M; Bathgate, C; Holm, K; Murphy, N; Kilbourn, K; Wamboldt, F; Caohuy, H; Eidelman, O; Chen, T; Yang, Q; Walton, N; Pollard, H; Bukis, K; Cheng, Y; Armstrong, M; Conte, J; Coote, K; Allaire, N; Sivachenko, A; Mense, M; Cotton, C; Valley, H; Hejenkowska, E; Mitash, N; Donovan, J; Mu, F; Beer Stolz, D; Bertrand, C; Swiatecka-Urban, A; Doumit, M; Chuang, S; Middleton, P; Selvadurai, H; Sivam, S; Ruseckaite, R; Ahern, S; Mallitt, K; Pacey, V; Gray, K; Jaffe, A; Hudock, K; Cheng, P; Chmiel, J; Brown, C; Kramer, E; Indihar, V; Kopras, E; Aliaj, E; Hudson, J; Filigno, S; Brickel, K; Kelley, D; Jaso, T; Tran, H; Fullmer, J; Beachler, D; Sutton, S; Hayden, J; Howlett, M; Davies, J; Fleming, A; Elnazir, B; Williamson, M; McKone, E; Cox, D; Linnane, B; Quittner, A; McNally, P; Yuan, F; Gasser, G; Montoro, D; Jagadeesh, K; Lemire, E; Liu, X; Sun, X; Bartels, D; Haber, A; Engelhardt, J; Wong, E; Hino, K; Armstrong, M; Yoon, J; Allaire, N; Conte, J; Sivachenko, A; Cotton, C; Mense, M; Mahiou, J; Colombo, C; Alicandro, G; Bandera, A; Bouché, V; Biffi, A; Boraso, M; Cacchiarelli, D; Ciciriello, F; Cipolli, M; Gramegna, A; Itri, T; Lucidi, V; Medino, P; Rosazza, C; Galietta, L; Daccò, V; Cariani, L; Alicandro, G; Rosazza, C; Orena, B; Ferraro, F; Lanfranchi, C; Liporace, M; Colombo, C; Gautschi, F; Hage, R; Steinack, C; Schuurmans, MM; Vincken, S; Knoop, C; Verbanck, S; Buyck, N; Vanderhelst, E; Braisdell, K; West, NS; Ghani, MU; Sabar, MF; Awan, FI; Chapman, J; Gilchrist, F; Driscoll, S; Bakewell, K; Fishwick, R; Ho, S-A; Carroll, W; Markelić, I; Palković, T Odobašić; Bambir, I; Milinković, T; Tješić-Drinković, D; Dugac, A Vukić; Rees, H; Babu, S; Doherty, R; Fletcher, G; Joshy, S; O’Regan, P; Kirwan, L; Mir, MH; FitzMaurice, T; Wat, D; Aldous, G; Nazareth, D; Walshaw, M; Zver, A; Praprotnik, M; Aldeco, M; Lepej, D; Šmid, S Šetina; Berlot, J Rodman; Krivec, U; Keele, A; Read, J; Hameed, F; Bhaskaran, D; Yousif, M; Bateman, K; Rosazza, C; Medino, P; Bandera, A; Boraso, MS; Ciciriello, F; Cipolli, M; Galietta, LJ; Gramegna, A; Itri, T; Lucidi, V; Biffi, A; Alicandro, G; Colombo, C; Martiniano, S; Anthony, M; Vu, P; Khan, U; Xie, J; Wagner, B; Nichols, D; Jones, M; Lovell, V; Nick, J; Hawkins, P; Okuda, K; Leist, S; Schafër, A; Gilmore, R; Volmer, A; Chua, M; Livraghi-Butrico, A; O’Neal, W; Baric, R; Boucher, R; Pickles, R; Cheng, S; Le, T; McIlwaine, M; McIntosh, I; Wallenburg, J; Stephenson, A; Cacho, F; Srinivasan, S; Schoumacher, R; Hamilton, R; Ledbetter, J; Moser, M; Callison, J; Mathes, R; Quintero, D; Metcalf, A; Eastman, S; Tolle, J; Rushing, S; Brown, R; Li, S; Patel, A; Heintz, J; Nance, A; Rice, A; Sakellaris, K; Gemma, S; Blanton, S Pedigo; 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Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

显性胶原蛋白6突变的嵌合现象是家族内表型变异的原因

Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C; Foley, A Reghan; Leach, Meganne E; Dastgir, Jahannaz; Bolduc, Véronique; Cullup, Thomas; de Becdelièvre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J; Winder, Thomas L; Crawford, Thomas O; Weiss, Robert B; Muntoni, Francesco; Allamand, Valérie; Bönnemann, Carsten G

COMMD1 modulates noxious inflammation in cystic fibrosis

COMMD1 调节囊性纤维化的有害炎症

Alix de Becdelièvre, Jérémy Rocca, Abdel Aissat, Loic Drévillon, Stéphane Moutereau, Sabine Le Gouvello, Alexandre Hinzpeter, Agathe Tarze, Pascale Fanen