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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Genotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.

肿瘤坏死因子受体 TNFRSF1A 在上皮细胞中的基因型和转录加工:对囊性纤维化患者生存的影响

Uden Alexander, Dunsche Inga, Janciauskiene Sabina, Gräber Simon, Feng Longhua, Tamm Stephanie, Hedtfeld Silke, Stege Gesa, Jahn Kirsten, Kontsendorn Julia, Alfeis Nadine, Kühbandner Iris, Minso Rebecca, Dopfer Christian, Griese Matthias, Sommerburg Olaf, Ringshausen Felix C, Nährlich Lutz, Hansen Gesine, Welte Tobias, Braubach Peter, Mall Marcus A, Tümmler Burkhard, Dittrich Anna-Maria, Stanke Frauke

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Persistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions

婴儿持续性呼吸急促和婴儿神经内分泌细胞增生:从系统综述到未来方向

Nathan, Nadia; Grochowska, Magdalena; Krenke, Katarzyna; Epaud, Ralph; Reix, Philippe; Griese, Matthias; Louvrier, Camille; Soreze, Yohan; Mulard, Cécile; Donnet, Barbara; Ducou le Pointe, Hubert; Dufour-Barba, Clémence; Coulomb l'Herminé, Aurore; Dubus, Jean-Christophe; Marczak, Honorata

Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review

NKX2-1相关疾病的呼吸系统及其他器官表现:系统性综述

Michel, Katarzyna; Ruiz-Ramos, Alba; Nou-Fontanet, Laia; Martín-Gomez, Carmen; Carmona Hidalgo, Beatriz; Isabel-Gomez, Rebeca; Rosario-Lozano, María Piedad; Rodriguez-Lopez, Rocio; Wagner, Thomas O F; Blasco-Amaro, Juan Antonio; Griese, Matthias; Ortigoza-Escobar, Juan Darío

An update on diagnosis and treatments of childhood interstitial lung diseases

儿童间质性肺疾病的诊断和治疗进展

Marczak, Honorata; Krenke, Katarzyna; Griese, Matthias; Carlens, Julia; Seidl, Elias; Gilbert, Carlee; Emiralioglu, Nagehan; Torrent-Vernetta, Alba; Willemse, Brigitte; Epaud, Ralph; Delestrain, Celine; Louvrier, Camille; Koucký, Václav; Nathan, Nadia

Inhaled recombinant GM-CSF reduces the need for whole lung lavage and improves gas exchange in autoimmune pulmonary alveolar proteinosis patients

吸入重组粒细胞-巨噬细胞集落刺激因子(GM-CSF)可减少自身免疫性肺泡蛋白沉积症患者进行全肺灌洗的需要,并改善其气体交换。

Campo, Ilaria; Carey, Brenna C; Paracchini, Elena; Kadija, Zamir; De Silvestri, Annalisa; Rodi, Giuseppe; De Amici, Mara; Torre, Cristina; Zorzetto, Michele; Griese, Matthias; Meloni, Federica; Corsico, Angelo Guido; Trapnell, Bruce C; Mariani, Francesca

Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine

肺纤维化的遗传学和基因组学:绘制分子图谱,塑造精准医学

Adegunsoye, Ayodeji; Kropski, Jonathan A; Behr, Juergen; Blackwell, Timothy S; Corte, Tamera J; Cottin, Vincent; Glanville, Allan R; Glassberg, Marilyn K; Griese, Matthias; Hunninghake, Gary M; Johannson, Kerri A; Keane, Michael P; Kim, John S; Kolb, Martin; Maher, Toby M; Oldham, Justin M; Podolanczuk, Anna J; Rosas, Ivan O; Martinez, Fernando J; Noth, Imre; Schwartz, David A

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger, John I Jr; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N