未登录 XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuss, Silke; Yigit, Goekhan; Mckeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey 分享 收藏
Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update Adelon, Jihane; Abolhassani, Hassan; Esenboga, Saliha; Fouyssac, Fanny; Cagdas, Deniz; Tezcan, Ilhan; Kuskonmaz, Baris; Cetinkaya, Duygu; Suarez, Felipe; Mahdaviani, Seyed Alireza; Plassart, Samira; Mathieu, Anne-Laure; Fabien, Nicole; Malcus, Christophe; Morfin-Sherpa, Florence; Billaud, Genevieve; Tusseau, Maud; Benezech, Sarah; Walzer, Thierry; De Villartay, Jean-Pierre; Bertrand, Yves; Belot, Alexandre 分享 收藏
分享 收藏
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency Benavides-Nieto, Marta; Adam, Frederic; Martin, Emmanuel; Boussard, Charlotte; Lagresle-Peyrou, Chantal; Callebaut, Isabelle; Kauskot, Alexandre; Reperant, Christelle; Feng, Miao; Bordet, Jean-Claude; Castelle, Martin; Morelle, Guillaume; Brouzes, Chantal; Zarhrate, Mohammed; Panikulam, Patricia; Lambert, Nathalie; Picard, Capucine; Bodet, Damien; Rouger-Gaudichon, Jeremie; Revy, Patrick; de Villartay, Jean-Pierre; Moshous, Despina 分享 收藏
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways Petrova, Evgeniya; Lopez-Gay, Jesus Maria; Fahrner, Matthias; Leturcq, Florent; de Villartay, Jean-Pierre; Barbieux, Claire; Gonschorek, Patrick; Tsoi, Lam C.; Gudjonsson, Johann E.; Schilling, Oliver; Hovnanian, Alain 分享 收藏
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders Bertrand, Alexis; Ba, Ibrahima; Kermasson, Laetitia; Pirabakaran, Vithura; Chable, Noemie; Lainey, Elodie; Menard, Christelle; Kallel, Faten; Picard, Capucine; Hadiji, Sondes; Coolen-Allou, Nathalie; Blanchard, Elodie; de Villartay, Jean-Pierre; Moshous, Despina; Roelens, Marie; Callebaut, Isabelle; Kannengiesser, Caroline; Revy, Patrick 分享 收藏
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency Jauch, Annaise J.; Bignucolo, Olivier; Seki, Sayuri; Ghraichy, Marie; Delmonte, Ottavia M.; von Niederhausern, Valentin; Higgins, Rebecca; Ghosh, Adhideb; Nishizawa, Masako; Tanaka, Mariko; Baldrich, Adrian; Koppen, Julius; Hirsiger, Julia R.; Hupfer, Robin; Ehl, Stephan; Rensing-Ehl, Anne; Hopfer, Helmut; Prince, Spasenija Savic; Daley, Stephen R.; Marquardsen, Florian A.; Meyer, Benedikt J.; Tamm, Michael; Daikeler, Thomas D.; Diesch, Tamara; Kuehne, Thomas; Helbling, Arthur; Berkemeier, Caroline; Heijnen, Ingmar; Navarini, Alexander A.; Truck, Johannes; de Villartay, Jean-Pierre; Oxenius, Annette; Berger, Christoph T.; Hess, Christoph; Notarangelo, Luigi D.; Yamamoto, Hiroyuki; Recher, Mike 分享 收藏
XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors Bery, Amandine; Etienne, Olivier; Mouton, Laura; Mokrani, Sofiane; Granotier-Beckers, Christine; Gauthier, Laurent R.; Feat-Vetel, Justyne; Kortulewski, Thierry; Peres, Elodie A.; Desmaze, Chantal; Lestaveal, Philippe; Barroca, Vilma; Laugeray, Antony; Boumezbeur, Fawzi; Abramovski, Vincent; Mortaud, Stephane; Menuet, Arnaud; Le Bihan, Denis; de Villartay, Jean-Pierre; Boussin, Francois D. 分享 收藏
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression Γ-珠蛋白顺式调节元件的碱基编辑介导的解剖，用于胎儿血红蛋白表达的治疗性再激活 Antoniou, Panagiotis; Hardouin, Giulia; Martinucci, Pierre; Frati, Giacomo; Felix, Tristan; Chalumeau, Anne; Fontana, Letizia; Martin, Jeanne; Masson, Cecile; Brusson, Megane; Maule, Giulia; Rosello, Marion; Giovannangeli, Carine; Abramowski, Vincent; De Villartay, Jean-Pierre; Concordet, Jean-Paul; Del Bene, Filippo; El Nemer, Wassim; Amendola, Mario; Cavazzana, Marina; Cereseto, Anna; Romano, Oriana; Miccio, Annarita 分享 收藏
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited Allain, Vincent; Grandin, Virginie; Meignin, Veronique; Bertinchamp, Remi; Boutboul, David; Fieschi, Claire; Galicier, Lionel; Gerard, Laurence; Malphettes, Marion; Bustamante, Jacinta; Fusaro, Mathieu; Lambert, Nathalie; Rosain, Jeremie; Lenoir, Christelle; Kracker, Sven; Rieux-Laucat, Frederic; Latour, Sylvain; De Villartay, Jean-Pierre; Picard, Capucine; Oksenhendler, Eric 分享 收藏
分享 收藏
Somatic genetic rescue of a germline ribosome assembly defect (vol 12, 5044, 2021) Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏
Somatic genetic rescue of a germline ribosome assembly defect Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏
Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2 Barthlott, Thomas; Handel, Adam E.; Teh, Hong Ying; Wirasinha, Rushika C.; Hafen, Katrin; Zuklys, Saulius; Roch, Benoit; Orkin, Stuart H.; de Villartay, Jean-Pierre; Daley, Stephen R.; Hollaender, Georg A. 分享 收藏
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency Pillay, Bethany A.; Fusaro, Mathieu; Gray, Paul E.; Statham, Aaron L.; Burnett, Leslie; Bezrodnik, Liliana; Kane, Alisa; Tong, Winnie; Abdo, Chrystelle; Winter, Sarah; Chevalier, Samuel; Levy, Romain; Masson, Cecile; Schmitt, Yohann; Bole, Christine; Malphettes, Marion; Macintyre, Elizabeth; Villartay, Jean-Pierre De; Ziegler, John B.; Smart, Joanne M.; Peake, Jane; Aghamohammadi, Asghar; Hammarstrom, Lennart; Abolhassani, Hassan; Picard, Capucine; Fischer, Alain; Latour, Sylvain; Neven, Benedicte; Tangye, Stuart G.; Ma, Cindy S. 分享 收藏
A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans Chansel-Da Cruz, Marie; Hohl, Marcel; Ceppi, Ilaria; Kermasson, Laetitia; Maggiorella, Laurence; Modesti, Mauro; de Villartay, Jean-Pierre; Ileri, Talia; Cejka, Petr; Petrini, John H. J.; Revy, Patrick 分享 收藏
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation Martin, Emmanuel; Minet, Norbert; Boschat, Anne-Claire; Sanquer, Sylvia; Sobrino, Steicy; Lenoir, Christelle; de Villartay, Jean Pierre; Leite-de-Moraes, Maria; Picard, Capucine; Soudais, Claire; Bourne, Tim; Hambleton, Sophie; Hughes, Stephen M.; Wynn, Robert F.; Briggs, Tracy A.; Patel, Smita; Lawrence, Monica G.; Fischer, Alain; Arkwright, Peter D.; Latour, Sylvain 分享 收藏
分享 收藏
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome Benyelles, Maname; O'donohue, Marie-Francoise; Kermasson, Laetitia; Lainey, Elodie; Borie, Raphael; Lagresle-Peyrou, Chantal; Nunes, Hilario; Cazelles, Clarisse; Fourrage, Cecile; Ollivier, Emmanuelle; Marcais, Ambroise; Gamez, Anne-Sophie; Morice-Picard, Fanny; Caillaud, Denis; Pottier, Nicolas; Menard, Christelle; Ba, Ibrahima; Fernandes, Alicia; Crestani, Bruno; de Villartay, Jean-Pierre; Gleizes, Pierre-Emmanuel; Callebaut, Isabelle; Kannengiesser, Caroline; Revy, Patrick 分享 收藏
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models Benyelles, Maname; Episkopou, Harikleia; O'Donohue, Marie-Francoise; Kermasson, Laetitia; Frange, Pierre; Poulain, Florian; Belen, Fatma Burcu; Polat, Meltem; Bole-Feysot, Christine; Langa-Vives, Francina; Gleizes, Pierre-Emmanuel; de Villartay, Jean-Pierre; Callebaut, Isabelle; Decottignies, Anabelle; Revy, Patrick 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
