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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1681 - 1689.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 6, pp. 1619 - 1626.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 4, pp. 998 - 1007.e6
Background Immunoglobulin class-switch recombination defects (CSR-D) are rare primary immunodeficiencies characterized by impaired production of switched... 
Allergy and Immunology | cohesin | class-switch recombination defect | CSR synapse | Chromatin remodeling | STRAND BREAK REPAIR | HUMAN-CELLS | TRANSCRIPTION | IMMUNOLOGY | ACTIVATION-INDUCED DEAMINASE | YY1 | ALLERGY | DNA | GENE-EXPRESSION | AID | HYPER-IGM | Cell Line | ATPases Associated with Diverse Cellular Activities | Chromosomal Proteins, Non-Histone - metabolism | Humans | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Cell Survival - genetics | Chromatin Assembly and Disassembly | Immunoglobulin Isotypes - genetics | Protein Transport | Genetic Variation | DNA Helicases - metabolism | Carrier Proteins - metabolism | Models, Biological | DNA Repair | Gene Rearrangement | Immunoglobulin Switch Region | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Protein Binding | Immunologic Deficiency Syndromes - immunology | DNA Helicases - genetics | Immunoglobulin Class Switching | Immunoglobulins | Chromatin | Genomics | Immunodeficiency | Proteins | DNA methylation | Chronic obstructive pulmonary disease | Infections | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Immune system | Defects | Immune Deficiencies, Infection, and Systemic Immune Disorders | TCR, T-cell receptor | CSR, Class-switch recombination | MMR, Mismatch repair | AID, Activation-induced cytidine deaminase | ChIP, Chromatin immunoprecipitation | CSR-Ds, CSR defects | NHEJ, Non-homologous end joining | GLT, Germ-line transcript | DAPI, 4′,6-Diamidino-2-phenylindole | wt, Wild type
Journal Article
by Torchia, Jonathon, MSc and Picard, Daniel, MSc and Lafay-Cousin, Lucie, MD and Hawkins, Cynthia E, PhD and Kim, Seung-Ki, MD and Letourneau, Louis, BSc and Ra, Young-Shin, Prof and Ho, King Ching, MSc and Chan, Tiffany Sin Yu, PhD and Sin-Chan, Patrick, MSc and Dunham, Christopher P, MD and Yip, Stephen, FRCPC and Ng, Ho-keung, MD and Lu, Jian-Qiang, FRCPC and Albrecht, Steffen, MD and Pimentel, José, PhD and Chan, Jennifer A, MD and Somers, Gino R, MBBS and Zielenska, Maria, PhD and Faria, Claudia C, PhD and Roque, Lucia, PhD and Baskin, Berivan, PhD and Birks, Diane, MS and Foreman, Nick, Prof and Strother, Douglas, MD and Klekner, Almos, PhD and Garami, Miklos, PhD and Hauser, Peter, PhD and Hortobágyi, Tibor, PhD and Bognár, Laszló, PhD and Wilson, Beverly, MD and Hukin, Juliette, FRCPC and Carret, Anne-Sophie, MD and Van Meter, Timothy E, PhD and Nakamura, Hideo, MD and Toledano, Helen, MD and Fried, Iris, MD and Fults, Daniel, MD and Wataya, Takafumi, PhD and Fryer, Chris, FRCPC and Eisenstat, David D, MD and Scheineman, Katrin, Prof and Johnston, Donna, MD and Michaud, Jean, MD and Zelcer, Shayna, MD and Hammond, Robert, MD and Ramsay, David A, MBChB and Fleming, Adam J, MD and Lulla, Rishi R, MD and Fangusaro, Jason R, MD and Sirachainan, Nongnuch, MD and Larbcharoensub, Noppadol, MD and Hongeng, Suradej, MD and Barakzai, Muhammad Abrar, MD and Montpetit, Alexandre, PhD and Stephens, Derek, MSc and Grundy, Richard G, FRCPCH and Schüller, Ulrich, MD and Nicolaides, Theodore, MD and Tihan, Tarik, PhD and Phillips, Joanna, PhD and Taylor, Michael D, PhD and Rutka, James T, MD and Dirks, Peter, PhD and Bader, Gary D, PhD and Warmuth-Metz, Monika, Prof and Rutkowski, Stefan, Prof and Pietsch, Torsten, Prof and Judkins, Alexander R, MD and Jabado, Nada, PhD and Bouffet, Eric, Prof and Huang, Annie, Dr and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Lancet Oncology, The, ISSN 1470-2045, 2015, Volume 16, Issue 5, pp. 569 - 582
Journal Article
by Thompson, Eric M, MD and Hielscher, Thomas, MSc and Bouffet, Eric, Prof and Remke, Marc, MD and Luu, Betty, BSc and Gururangan, Sridharan, Prof and McLendon, Roger E, Prof and Bigner, Darell D, Prof and Lipp, Eric S, MD and Perreault, Sebastien, MD and Cho, Yoon-Jae, MD and Grant, Gerald, MD and Kim, Seung-Ki, Prof and Lee, Ji Yeoun, MD and Rao, Amulya A Nageswara, MD and Giannini, Caterina, Prof and Li, Kay Ka Wai, MD and Ng, Ho-Keung, Prof and Yao, Yu, MD and Kumabe, Toshihiro, MD and Tominaga, Teiji, Prof and Grajkowska, Wieslawa A, Prof and Perek-Polnik, Marta, Prof and Low, David C Y, MBBCh and Seow, Wan Tew, MBBS and Chang, Kenneth T E, MBBCh and Mora, Jaume, Prof and Pollack, Ian F, Prof and Hamilton, Ronald L, MD and Leary, Sarah, MD and Moore, Andrew S, PhD and Ingram, Wendy J, PhD and Hallahan, Andrew R, MBBS and Jouvet, Anne, MD and Fèvre-Montange, Michelle, PhD and Vasiljevic, Alexandre, MD and Faure-Conter, Cecile, MD and Shofuda, Tomoko, PhD and Kagawa, Naoki, MD and Hashimoto, Naoya, MD and Jabado, Nada, MD and Weil, Alexander G, MD and Gayden, Tenzin, PhD and Wataya, Takafumi, MD and Shalaby, Tarek, MD and Grotzer, Michael, Prof and Zitterbart, Karel, PhD and Sterba, Jaroslav, Prof and Kren, Leos, MD and Hortobágyi, Tibor, Prof and Klekner, Almos, PhD and László, Bognár, Prof and Pócza, Tímea, MSc and Hauser, Peter, MD and Schüller, Ulrich, MD and Jung, Shin, Prof and Jang, Woo-Youl, MD and French, Pim J, Prof and Kros, Johan M, Prof and van Veelen, Marie-Lise C, MD and Massimi, Luca, MD and Leonard, Jeffrey R, Prof and Rubin, Joshua B, MD and Vibhakar, Rajeev, MD and Chambless, Lola B, MD and Cooper, Michael K, MD and Thompson, Reid C, Prof and Faria, Claudia C, MD and Carvalho, Alice, MD and Nunes, Sofia, MD and Pimentel, José, MD and Fan, Xing, MD and Muraszko, Karin M, Prof and López-Aguilar, Enrique, MD and Lyden, David, Prof and Garzia, Livia, PhD and Shih, David J H, PhD and Kijima, Noriyuki, MD and Schneider, Christian, MD and Adamski, Jennifer, PhD and Northcott, Paul A, PhD and Kool, Marcel, PhD and Jones, David T W, PhD and Chan, Jennifer A, MD and Nikolic, Ana, MD and Garre, Maria Luisa, MD and Van Meir, Erwin G, Prof and Osuka, Satoru, MD and Olson, Jeffrey J, Prof and Jahangiri, Arman, BSc and Castro, Brandyn A, BSc and Gupta, Nalin, MD and Weiss, William A, Prof and Moxon-Emre, Iska, MSc and Mabbott, Donald J, PhD and Lassaletta, Alvaro, MD and Hawkins, Cynthia E, Prof and Tabori, Uri, MD and Drake, James, Prof and Kulkarni, Abhaya, Prof and ...
The Lancet Oncology, ISSN 1470-2045, 2016, Volume 17, Issue 4, pp. 484 - 495
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2013, Volume 14, Issue 12, pp. 1200 - 1207
Journal Article
Journal Article
by Waszak, Sebastian M and Northcott, Paul A and Buchhalter, Ivo and Robinson, Giles W and Sutter, Christian and Groebner, Susanne and Grund, Kerstin B and Brugières, Laurence and Jones, David T W and Pajtler, Kristian W and Morrissy, A Sorana and Kool, Marcel and Sturm, Dominik and Chavez, Lukas and Ernst, Aurelie and Brabetz, Sebastian and Hain, Michael and Zichner, Thomas and Segura-Wang, Maia and Weischenfeldt, Joachim and Rausch, Tobias and Mardin, Balca R and Zhou, Xin and Baciu, Cristina and Lawerenz, Christian and Chan, Jennifer A and Varlet, Pascale and Guerrini-Rousseau, Lea and Fults, Daniel W and Grajkowska, Wiesława and Hauser, Peter and Jabado, Nada and Ra, Young-Shin and Zitterbart, Karel and Shringarpure, Suyash S and De La Vega, Francisco M and Bustamante, Carlos D and Ng, Ho-Keung and Perry, Arie and MacDonald, Tobey J and Hernáiz Driever, Pablo and Bendel, Anne E and Bowers, Daniel C and McCowage, Geoffrey and Chintagumpala, Murali M and Cohn, Richard and Hassall, Timothy and Fleischhack, Gudrun and Eggen, Tone and Wesenberg, Finn and Feychting, Maria and Lannering, Birgitta and Schüz, Joachim and Johansen, Christoffer and Andersen, Tina V and Röösli, Martin and Kuehni, Claudia E and Grotzer, Michael and Kjaerheim, Kristina and Monoranu, Camelia M and Archer, Tenley C and Duke, Elizabeth and Pomeroy, Scott L and Shelagh, Redmond and Frank, Stephan and Sumerauer, David and Scheurlen, Wolfram and Ryzhova, Marina V and Milde, Till and Kratz, Christian P and Samuel, David and Zhang, Jinghui and Solomon, David A and Marra, Marco and Eils, Roland and Bartram, Claus R and von Hoff, Katja and Rutkowski, Stefan and Ramaswamy, Vijay and Gilbertson, Richard J and Korshunov, Andrey and Taylor, Michael D and Lichter, Peter and Malkin, David and Gajjar, Amar and Korbel, Jan O and Pfister, Stefan M and Sahlgrenska akademin and Institute of Clinical Sciences, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, Avdelningen för pediatrik and Sahlgrenska Academy
The Lancet Oncology, ISSN 1470-2045, 06/2018, Volume 19, Issue 6, pp. 785 - 798
Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been... 
BREAST-CANCER | CHILDHOOD-CANCER | ONCOLOGY | LANDSCAPE | TP53 MUTATION | SUBGROUPS | FANCONI-ANEMIA | PALB2 | SOMATIC MUTATIONS | BRAIN-TUMORS | CHILDREN | Medicine, Experimental | Genetic research | Clinical trials | Medical research | Medulloblastoma | fanconi-anemia | Oncology | breast-cancer | tp53 | somatic mutations | mutation | subgroups | palb2 | brain-tumors | children | childhood-cancer | Cancer and Oncology | landscape | Cancer och onkologi
Journal Article
Nature Communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, p. 11185
Journal Article