未登录Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles减数分裂I的缺陷导致雄激素性葡萄胎的发生
Rezaei, Maryam; Liang, Manqi; Yalcin, Zeynep; Martin, Jacinta H.; Kazemi, Parinaz; Bareke, Eric; Ge, Zhao-Jia; Fardaei, Majid; Benadiva, Claudio; Hemida, Reda; Hassan, Adnan; Maher, Geoffrey J.; Abdalla, Ebtesam; Buckett, William; Bolze, Pierre-Adrien; Sandhu, Iqbaljit; Duman, Onur; Agrawal, Suraksha; Qian, Jianhua; Broojeni, Jalal Vallian; Bhati, Lavi; Miron, Pierre; Allias, Fabienne; Selim, Amal; Fisher, Rosemary A.; Seckl, Michael J.; Sauthier, Philippe; Touitou, Isabelle; Tan, Seang Lin; Majewski, Jacek; Taketo, Teruko; Slim, Rima .png)
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收藏Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation与CAPS自身炎症相关的NLRP3功能获得突变体的功能多样性Cosson, Camille; Riou, Romane; Patoli, Danish; Niu, Tingting; Rey, Amaury; Groslambert, Marine; De Rosny, Charlotte; Chatre, Elodie; Allatif, Omran; Henry, Thomas; Venet, Fabienne; Milhavet, Florian; Boursier, Guilaine; Belot, Alexandre; Jamilloux, Yvan; Merlin, Etienne; Duquesne, Agnes; Grateau, Gilles; Savey, Lea; Maria, Alexandre Thibault Jacques; Pagnier, Anne; Poutrel, Solene; Lambotte, Olivier; Mallebranche, Coralie; Ardois, Samuel; Richer, Olivier; Lemelle, Irene; Rieux-Laucat, Frederic; Bader-Meunier, Brigitte; Amoura, Zahir; Melki, Isabelle; Cuisset, Laurence; Touitou, Isabelle; Geyer, Matthias; Georgin-Lavialle, Sophie; Py, Benedicte F. 分享 收藏 分享 收藏 Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activationChirita, Daria; Bronnec, Pauline; Magnotti, Flora; Dalmon, Sarah; Martin, Amandine; Popoff, Michel; Gerfaud-Valentin, Mathieu; Seve, Pascal; Belot, Alexandre; Contis, Anne; Duquesne, Agnes; Nocturne, Gaetane; Lemelle, Irene; Georgin-Lavialle, Sophie; Boursier, Guilaine; Touitou, Isabelle; Jamilloux, Yvan; Henry, Thomas 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPSRittore, Cecile; Mechin, Deborah; Sanchez, Elodie; Marineche, Lea; Ea, Vuthy; Soler, Stephan; Vereecke, Marion; Mallavialle, Aude; Richard, Eric; Duroux-Richard, Isabelle; Apparailly, Florence; Touitou, Isabelle; Grandemange, Sylvie 分享 收藏 Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational studyChasset, Francois; Fayand, Antoine; Moguelet, Philippe; Kouby, Floriane; Bonhomme, Axelle; Franck, Nathalie; Goldman-levy, Gabrielle; Fraitag, Sylvie; Barbaud, Annick; Queyrel, Viviane; Touitou, Isabelle; Boursier, Guilaine; Sarrabay, Guillaume; Ducharme-Benard, Stephanie; Dupin, Nicolas; Frances, Camille; Bessis, Didier; Georgin-Lavialle, Sophie 分享 收藏 分享 收藏 Clinical and Molecular Spectrum of Nonsyndromic Early-Onset OsteoarthritisRuault, Valentin; Yauy, Kevin; Fabre, Aurelie; Fradin, Melanie; Van-Gils, Julien; Angelini, Chloe; Baujat, Genevieve; Blanchet, Patricia; Cuinat, Silvestre; Isidor, Bertrand; Jorgensen, Christian; Lacombe, Didier; Moutton, Sebastien; Odent, Sylvie; Sanchez, Elodie; Sigaudy, Sabine; Touitou, Isabelle; Willems, Marjolaine; Apparailly, Florence; Genevieve, David; Barat-Houari, Mouna 分享 收藏 Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnanciesCozette, Claire; Scheffler, Florence; Lombart, Melyne; Massardier, Jerome; Bolze, Pierre-Adrien; Hajri, Touria; Golfier, Francois; Touitou, Isabelle; Rittore, Cecile; Gondry, Jean; Merviel, Philippe; Benkhalifa, Moncef; Cabry, Rosalie 分享 收藏 分享 收藏 PSMB10, the last immunoproteasome gene missing for PRAASSarrabay, Guillaume; Mechin, Deborah; Salhi, Aicha; Boursier, Guilaine; Rittore, Cecile; Crow, Yanick; Rice, Gillian; Tu-Anh Tran; Cezar, Renaud; Duffy, Darragh; Bondet, Vincent; Boudhane, Lakhdar; Broca, Christophe; Kant, Benjamin P.; VanGijn, Marielle; Grandemange, Sylvie; Richard, Eric; Apparailly, Florence; Touitou, Isabelle 分享 收藏 ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraShinar, Yael; Ceccherini, Isabella; Rowczenio, Dorota; Aksentijevich, Ivona; Arostegui, Juan; Ben-Chetrit, Eldad; Boursier, Guilaine; Gattorno, Marco; Hayrapetyan, Hasmik; Ida, Hiroaki; Kanazawa, Nobuo; Lachmann, Helen J.; Mensa-Vilaro, Anna; Nishikomori, Ryuta; Oberkanins, Christian; Obici, Laura; Ohara, Osamu; Ozen, Seza; Sarkisian, Tamara; Sheils, Katie; Wolstenholme, Nicola; Zonneveld-Huijssoon, Evelien; van Gijn, Marielle E.; Touitou, Isabelle 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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