未登录Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Wigby, Kristen M.; Baratang, Nissan V.; Rousseau, Justine; St-Denis, Anik; Rosenfeld, Jill A.; Laniewski, Stephanie C.; Jones, Julie; Iglesias, Alejandro D.; Jones, Marilyn C.; Masser-Frye, Diane; Scheuerle, Angela E.; Perry, Denise L.; Taft, Ryan J.; Le Deist, Francoise; Thompson, Miles; Kinoshita, Taroh; Campeau, Philippe M. .png)
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收藏Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen; Murakami, Yoshiko; Sheridan, Eamonn; Ehresmann, Sophie; Rousseau, Justine; St-Denis, Anik; Chai, Guoliang; Ajeawung, Norbert F.; Fairbrother, Laura; Reimschisel, Tyler; Bateman, Alexandra; Berry-Kravis, Elizabeth; Xia, Fan; Tardif, Jessica; Parry, David A.; Logan, Clare V.; Diggle, Christine; Bennett, Christopher P.; Hattingh, Louise; Rosenfeld, Jill A.; Perry, Michael Scott; Parker, Michael J.; Le Deist, Francoise; Zaki, Maha S.; Ignatius, Erika; Isohanni, Pirjo; Lonnqvist, Tuula; Carroll, Christopher J.; Johnson, Colin A.; Gleeson, Joseph G.; Kinoshita, Taroh; Campeau, Philippe M. 分享 收藏 A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital MalformationsPacheco-Cuellar, Guillermo; Gauthier, Julie; Desilets, Valerie; Lachance, Christian; Lemire-Girard, Marlene; Rypens, Francoise; Le Deist, Francoise; Decaluwe, Helene; Duval, Michel; Soglio, Dorothee Bouron-Dal; Kokta, Victor; Haddad, Elie; Campeau, Philippe M. 分享 收藏 Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyJohnstone, Devon L.; Thi-Tuyet-Mai Nguyen; Murakami, Yoshiko; Kernohan, Kristin D.; Tetreault, Martine; Goldsmith, Claire; Doja, Asif; Wagner, Justin D.; Huang, Lijia; Hartley, Taila; St-Denis, Anik; le Deist, Francoise; Majewski, Jacek; Bulman, Dennis E.; Kinoshita, Taroh; Dyment, David A.; Boycott, Kym M.; Campeau, Philippe M. 分享 收藏 Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disabilityEdvardson, Simon; Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Shahrour, Maher; St-Denis, Anik; Shaag, Avraham; Damseh, Nadira; Le Deist, Francoise; Bryceson, Yenan; Abu-Libdeh, Bassam; Campeau, Philippe M.; Kinoshita, Taroh; Elpeleg, Orly 分享 收藏 Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease影响NOD2信号的TRIM22变异与极早发性炎症性肠病相关Li, Qi; Lee, Cheng Hiang; Peters, Lauren A.; Mastropaolo, Lucas A.; Thoeni, Cornelia; Elkadri, Abdul; Schwerd, Tobias; Zhu, Jun; Zhang, Bin; Zhao, Yongzhong; Hao, Ke; Dinarzo, Antonio; Hoffman, Gabriel; Kidd, Brian A.; Murchie, Ryan; Al Adham, Ziad; Guo, Conghui; Kotlarz, Daniel; Cutz, Ernest; Walters, Thomas D.; Shouval, Dror S.; Curran, Mark; Dobrin, Radu; Brodmerkel, Carrie; Snapper, Scott B.; Klein, Christoph; Brumell, John H.; Hu, Mingjing; Nanan, Ralph; Snanter-Nanan, Brigitte; Wong, Melanie; Le Deist, Francoise; Haddad, Elie; Roifman, Chaim M.; Deslandres, Colette; Griffiths, Anne M.; Gaskin, Kevin J.; Uhlig, Holm H.; Schadt, Eric E.; Muise, Aleixo M. 分享 收藏 分享 收藏 分享 收藏 ICON: The Early Diagnosis of Congenital ImmunodeficienciesRoutes, John; Abinun, Mario; Al-Herz, Waleed; Bustamante, Jacinta; Condino-Neto, Antonio; De La Morena, Maria Teresa; Etzioni, Amos; Gambineri, Eleonora; Haddad, Elie; Kobrynski, Lisa; Le Deist, Francoise; Nonoyama, Shigeaki; Oliveira, Joao Bosco; Perez, Elena; Picard, Capucine; Rezaei, Nima; Sleasman, John; Sullivan, Kathleen E.; Torgerson, Troy 分享 收藏 Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of HumansCasals, Ferran; Hodgkinson, Alan; Hussin, Julie; Idaghdour, Youssef; Bruat, Vanessa; de Maillard, Thibault; Grenier, Jean-Cristophe; Gbeha, Elias; Hamdan, Fadi F.; Girard, Simon; Spinella, Jean-francois; Lariviere, Mathieu; Saillour, Virginie; Healy, Jasmine; Fernandez, Isabel; Sinnett, Daniel; Michaud, Jacques L.; Rouleau, Guy A.; Haddad, Elie; Le Desit, Francoise; Awadalla, Philip 分享 收藏 A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency一个合并免疫缺陷的家庭中的纯合粘膜相关淋巴样组织1 (MALT1) 突变Jabara, Haifa H.; Ohsumi, Toshiro; Chou, Janet; Massaad, Michel J.; Benson, Halli; Megarbane, Andre; Chouery, Eliane; Mikhael, Raymond; Gorka, Oliver; Gewies, Andreas; Portales, Pierre; Nakayama, Toshinori; Hosokawa, Hiroyuki; Revy, Patrick; Herrod, Henry; Le Deist, Francoise; Lefranc, Gerard; Ruland, Juergen; Geha, Raif S. 分享 收藏 分享 收藏 Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaSamuels, Mark E.; Majewski, Jacek; Alirezaie, Najmeh; Fernandez, Isabel; Casals, Ferran; Patey, Natalie; Decaluwe, Helene; Gosselin, Isabelle; Haddad, Elie; Hodgkinson, Alan; Idaghdour, Youssef; Marchand, Valerie; Michaud, Jacques L.; Rodrigue, Marc-Andre; Desjardins, Sylvie; Dubois, Stephane; Le Deist, Francoise; Awadalla, Philip; Raymond, Vincent; Maranda, Bruno 分享 收藏 分享 收藏 分享 收藏 Reconstitution of Protective Immune Responses against Cytomegalovirus and Varicella Zoster Virus Does Not Require Disease Development in Pediatric Recipients of Umbilical Cord Blood TransplantationMerindol, Natacha; Fourati, Insaf Salem; Brito, Rose-Marie; Grenier, Anne-Julie; Charrier, Emily; Cordeiro, Paulo; Caty, Martine; Mezziani, Samira; Malette, Brigitte; Duval, Michel; Alfieri, Carolina; Ovetchkine, Philippe; Le Deist, Francoise; Soudeyns, Hugo 分享 收藏 分享 收藏 分享 收藏 Eculizumab in Severe Shiga-Toxin-Associated HUSLapeyraque, Anne-Laure; Malina, Michal; Fremeaux-Bacchi, Veronique; Boppel, Tobias; Kirschfink, Michael; Oualha, Mehdi; Proulx, Francois; Clermont, Marie-Jose; Le Deist, Francoise; Niaudet, Patrick; Schaefer, Franz 分享 收藏 分享 收藏 
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