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Orchestration of human multi-lineage hematopoietic cell development by humanized in vivo bone marrow models 人源化体内骨髓模型对人类多谱系造血细胞发育的调控 Renou, Laurent; Sun, Wenjie; Friedrich, Chloe; Galant, Klaudia; Conrad, Cecile; Consalus, Anne; Plantier, Evelia; Schallmoser, Katharina; Krisch, Linda; Barroca, Vilma; Devanand, Saryami; Dechamps, Nathalie; Reinisch, Andreas; Martinovic, Jelena; Magnani, Alessandra; Faivre, Lionel; Lewandowski, Daniel; Calvo, Julien; Perie, Leila; Kosmider, Olivier; Pflumio, Francoise 分享 收藏
Histologic and molecular features shared between antibody-mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis 肾移植抗体介导排斥反应与慢性组织细胞绒毛间质炎共有的组织学和分子特征支持其共同发病机制 Albersammer, Leonie; Leon, Juliette; Martinovic, Jelena; Dagobert, Jessy; Lebraud, Emilie; Bessieres, Bettina; Loeuillet, Laurence; Eloudzeri, Maeva; Vivanti, Alexandre J.; Dumery, Gregoire; Marchaudon, Valerie; Antal, Cristina; Korganow, Anne-Sophie; Quibel, Thibaud; Costedoat-Chalumeau, Nathalie; Tsatsaris, Vassilis; Benachi, Alexandra; Zuber, Julien; Rabant, Marion 分享 收藏
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Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases Alstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; Lopez-Menendez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Ostergaard, Elsebet 分享 收藏
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础 Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent 分享 收藏
Developmental interplay between transcriptional alterations and a targetable cytokine signaling dependency in pediatric ETO2::GLIS2 leukemia 小儿ETO2::GLIS2白血病中转录改变与可靶向细胞因子信号传导依赖性之间的发育相互作用 Alonso-Perez, Veronica; Galant, Klaudia; Boudia, Fabien; Robert, Elie; Aid, Zakia; Renou, Laurent; Barroca, Vilma; Devanand, Saryiami; Babin, Loelia; Rouiller-Fabre, Virginie; Moison, Delphine; Busso, Didier; Piton, Guillaume; Metereau, Christophe; Abermil, Nassera; Ballerini, Paola; Hirsch, Pierre; Haddad, Rima; Martinovic, Jelena; Petit, Arnaud; Lapillonne, Helene; Brunet, Erika; Mercher, Thomas; Pflumio, Francoise 分享 收藏
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Clinical, genetic and biochemical signatures of RBP4-related ocular malformations RBP4-related眼畸形的临床，遗传和生化特征 Plaisancie, Julie; Martinovic, Jelena; Chesneau, Bertrand; Whalen, Sandra; Rodriguez, Diana; Audebert-Bellanger, Severine; Marzin, Pauline; Grotto, Sarah; Perthus, Isabelle; Holt, Richard James; Bax, Dorine A.; Ragge, Nicola; Chassaing, Nicolas 分享 收藏
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome Bruel, Ange-Line; Ganga, Anil Kumar; Noskova, Lenka; Valenzuela, Irene; Martinovic, Jelena; Duffourd, Yannis; Zikanova, Marie; Majer, Filip; Kmoch, Stanislav; Mohler, Marketa; Sun, Jingbo; Sweeney, Lauren K.; Martinez-Gil, Nuria; Thauvin-Robinet, Christel; Breslow, David K. 分享 收藏
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla Tessier, Aude; Roux, Nathalie; Boutaud, Lucile; Lunel, Elodie; Hakkakian, Leila; Parisot, Melanie; Garfa-Traore, Meriem; Ichkou, Amale; Elkhartoufi, Nadia; Bole, Christine; Nitschke, Patrick; Amiel, Jeanne; Martinovic, Jelena; Encha-Razavi, Ferechte; Attie-Bitach, Tania; Thomas, Sophie 分享 收藏
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (vol 24, pg 1753, 2022) van der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attie-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Melanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-Gonzalez, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E. M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C. P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W. E. 分享 收藏
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Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Taie, Lucas Fares; Almontashiri, Naif A.; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G.; Nassif, Christina; Attie-Bitach, Tania; Miguet, Marguerite; Delous, Marion; Ernest, Sylvain; Plaisancie, Julie; Calvas, Patrick; Rozet, Jean-Michel; Khan, Arif O.; Hamdan, Fadi F.; Jamieson, Robyn, V; Alkuraya, Fowzan S.; Michaud, Jacques L.; Chassaing, Nicolas 分享 收藏
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases 大量严重肾脏疾病胎儿的靶向下一代测序 Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Moriniere, Vincent; Tournant, Carole; Audrezet, Marie-Pierre; Michel-Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie-Bitach, Tania; Bessieres, Bettina; Schaefer, Elise; Scheidecker, Sophie; Lambert, Laetitia; Beneteau, Claire; Patat, Olivier; Boute-Benejean, Odile; Molin, Arnaud; Guimiot, Fabien; Fontanarosa, Nicolas; Nizon, Mathilde; Lefebvre, Mathilde; Jeanpierre, Cecile; Saunier, Sophie; Heidet, Laurence 分享 收藏
Chronic histiocytic intervillositis: manifestation of placental alloantibody-mediated rejection Benachi, Alexandra; Rabant, Marion; Martinovic, Jelena; Bouchghoul, Hanane; Vivanti, Alexandre J.; Leon, Juliette; Grunenwald, Anne; Roumenina, Lubka; Celton, Jean-Louis; Bessieres, Bettina; Taupin, Jean-Luc; Zuber, Julien 分享 收藏
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 未诊断的多发性先天性关节畸形的表型谱和基因组学 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏
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