Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: RAG1[original query] |
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| Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genetics in medicine : official journal of the American College of Medical Genetics 0 6 (1): 16-26. Kalman Lisa, Lindegren Mary Lou, Kobrynski Lisa, Vogt Robert, Hannon Harry, Howard Joelyn Tonkin, Buckley Rebec |
| Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Blood 2006 Nov 108 (9): 3161-7. Hill Deirdre A, Wang Sophia S, Cerhan James R, Davis Scott, Cozen Wendy, Severson Richard K, Hartge Patricia, Wacholder Sholom, Yeager Meredith, Chanock Stephen J, Rothman Nathani |
| Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. American journal of human genetics 2006 Mar 78 (3): 464-79. Wu Xifeng, Gu Jian, Grossman H Barton, Amos Christopher I, Etzel Carol, Huang Maosheng, Zhang Qing, Millikan Randal E, Lerner Seth, Dinney Colin P, Spitz Margaret |
| GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. Clinical immunology (Orlando, Fla.) 2007 Aug 124 (2): 165-9. Haq Iram J, Steinberg Laura J, Hoenig Manfred, van der Burg Mirjam, Villa Anna, Cant Andrew J, Middleton Peter G, Gennery Andrew |
| Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nature genetics 2009 Dec 41 (12): 1313-8. Raychaudhuri Soumya, Thomson Brian P, Remmers Elaine F, Eyre Stephen, Hinks Anne, Guiducci Candace, Catanese Joseph J, Xie Gang, Stahl Eli A, Chen Robert, Alfredsson Lars, Amos Christopher I, Ardlie Kristin G, , Barton Anne, Bowes John, Burtt Noel P, Chang Monica, Coblyn Jonathan, Costenbader Karen H, Criswell Lindsey A, Crusius J Bart A, Cui Jing, De Jager Phillip L, Ding Bo, Emery Paul, Flynn Edward, Harrison Pille, Hocking Lynne J, Huizinga Tom W J, Kastner Daniel L, Ke Xiayi, Kurreeman Fina A S, Lee Annette T, Liu Xiangdong, Li Yonghong, Martin Paul, Morgan Ann W, Padyukov Leonid, Reid David M, Seielstad Mark, Seldin Michael F, Shadick Nancy A, Steer Sophia, Tak Paul P, Thomson Wendy, van der Helm-van Mil Annette H M, van der Horst-Bruinsma Irene E, Weinblatt Michael E, Wilson Anthony G, Wolbink Gert Jan, Wordsworth Paul, , Altshuler David, Karlson Elizabeth W, Toes Rene E M, de Vries Niek, Begovich Ann B, Siminovitch Katherine A, Worthington Jane, Klareskog Lars, Gregersen Peter K, Daly Mark J, Plenge Robert |
| IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID. Iranian journal of allergy, asthma, and immunology 2011 Jun 10 (2): 129-32. Safaei Sepideh, Pourpak Zahra, Moin Mostafa, Houshmand Masso |
| Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population. Medical oncology (Northwood, London, England) 2012 Jun 29 (2): 1173-8. Salagovi? Ján, Klim?áková Lucia, Ilen?íková Denisa, Kafková Adria |
| Deletions of IKZF1 and SPRED1 are associated with poor prognosis in a population-based series of pediatric B-cell precursor acute lymphoblastic leukemia diagnosed between 1992 and 2011. Leukemia 2014 Feb 28 (2): 302-10. Olsson L, Castor A, Behrendtz M, Biloglav A, Forestier E, Paulsson K, Johansson |
| Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility. BMC cancer 2013 13 (1): 234. Zhao Peng, Zou Peng, Zhao Lin, Yan Wei, Kang Chunsheng, Jiang Tao, You Yongpi |
| Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population. Reproduction (Cambridge, England) 2013 May 145 (5): 463-70. Ji Guixiang, Yan Lifeng, Liu Wei, Huang Cong, Gu Aihua, Wang Xin |
| Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 2019 Apr . Hadjadj Jérôme, Aladjidi Nathalie, Fernandes Helder, Leverger Guy, Magérus-Chatinet Aude, Mazerolles Fabienne, Stolzenberg Marie-Claude, Jacques Sidonie, Picard Capucine, Rosain Jérémie, Fourrage Cécile, Hanein Sylvain, Zarhrate Mohammed, Pasquet Marlène, Abou Chahla Wadih, Barlogis Vincent, Bertrand Yves, Pellier Isabelle, Colomb Bottollier Elodie, Fouyssac Fanny, Blouin Pascale, Thomas Caroline, Cheikh Nathalie, Dore Eric, Pondarre Corinne, Plantaz Dominique, Jeziorski Eric, Millot Frédéric, Garcelon Nicolas, Ducassou Stéphane, Perel Yves, Leblanc Thierry, Neven Bénédicte, Fischer Alain, Rieux-Laucat Frédéric, |
| Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran. Immunology letters 2019 Oct . Shahbazi Zahra, Yazdani Reza, Shahkarami Sepideh, Shahbazi Shirin, Hamid Mohammad, Sadeghi-Shabestari Mahnaz, Momen Tooba, Aleyasin Soheila, Esmaeilzadeh Hossein, Darougar Sepideh, Delavari Sama, Mahdaviani Seyed Alireza, Ahanchian Hamid, Behmanesh Fatemeh, Kiaee Fatemeh, Chavoshzade Zahra, Shariat Mansoureh, Keramatipour Mohammad, Rezaei Nima, Abolhassani Hassan, Parvaneh Nima, Mahdian Reza, Aghamohammadi Asgh |
| Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus. Immunology 2020 Sep . Calonga-Solís Verónica, Amorim Leonardo M, Farias Ticiana D J, Petzl-Erler Maria Luiza, Malheiros Danielle, Augusto Danillo |
| Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? Rheumatology (Oxford, England) 2020 5 60 (2): 607-616. Kosukcu Can, Taskiran Ekim Z, Batu Ezgi Deniz, Sag Erdal, Bilginer Yelda, Alikasifoglu Mehmet, Ozen Se |
| Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing. Journal of clinical immunology 2020 11 41 (2): 393-413. Arunachalam Arun Kumar, Maddali Madhavi, Aboobacker Fouzia N, Korula Anu, George Biju, Mathews Vikram, Edison Eunice Sindhu |
| Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. Journal of clinical immunology 2021 5 41 (6): 1291-1302. Lugo-Reyes Saul Oswaldo, Pastor Nina, González-Serrano Edith, Yamazaki-Nakashimada Marco Antonio, Scheffler-Mendoza Selma, Berron-Ruiz Laura, Wakida Guillermo, Nuñez-Nuñez Maria Enriqueta, Macias-Robles Ana Paola, Staines-Boone Aide Tamara, Venegas-Montoya Edna, Alaez-Verson Carmen, Molina-Garay Carolina, Flores-Lagunes Luis Leonardo, Carrillo-Sanchez Karol, Niemela Julie, Rosenzweig Sergio D, Gaytan Paul, Yañez Jorge A, Martinez-Duncker Ivan, Notarangelo Luigi D, Espinosa-Padilla Sara, Cruz-Munoz Mario Ernes |
| Three Novel Genetic Variants in the FAM110D, CACNA1A, and NLRP12 Genes Are Associated With Susceptibility to Hypertension Among Dai People. American journal of hypertension 2021 2 34 (8): 874-879. Zhang Lin, Sun Yun, Zhang Xiaochao, Shan Xiyun, Li Jianmei, Yao Yao, Shu Yun, Lin Keqin, Huang Xiaoqin, Yang Zhaoqing, Chu Jiayou, Huang Lifan, Sun H |
| Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients. Journal of clinical immunology 2021 10 42 (1): 130-145. Cifaldi Cristina, Rivalta Beatrice, Amodio Donato, Mattia Algeri, Pacillo Lucia, Di Cesare Silvia, Chiriaco Maria, Ursu Giorgiana Madalina, Cotugno Nicola, Giancotta Carmela, Manno Emma C, Santilli Veronica, Zangari Paola, Federica Galaverna, Palumbo Giuseppe, Merli Pietro, Palma Paolo, Rossi Paolo, Di Matteo Gigliola, Locatelli Franco, Finocchi Andrea, Cancrini Cateri |
| Integrative Functional Genomics Implicated the Key T-/B-Cell Deficiency Regulator RAG1 in Transarterial Chemoembolization of Hepatocellular Carcinoma. Frontiers in cell and developmental biology 2021 9 720791. Xu Yeyang, Wang Teng, Zeng Jiajia, Wang Bowen, Zhou Liqing, Yang Ming, Zhang Li, Zhang Nas |
| Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency. Journal of clinical immunology 2022 4 42 (5): 1036-1050. Ozturk Elif, Catak Mehmet Cihangir, Kiykim Ayca, Baser Dilek, Bilgic Eltan Sevgi, Yalcin Koray, Kasap Nurhan, Nain Ercan, Bulutoglu Alper, Akgun Gamze, Can Yasemin, Sefer Asena Pinar, Babayeva Royala, Caki-Kilic Suar, Tezcan Karasu Gulsun, Yesilipek Akif, Ozen Ahmet, Karakoc-Aydiner Elif, Baris Sa |
| Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood 2022 10 . Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry J A, Dimitrova D, Wolska-Ku?nierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia P J, Berghuis D, Buechner J, Buchbinder D, Cowan M J, Gennery A R, Güngör T, Heimall J, Miano M, Meyts I, Morris E C, Rivière J, Sharapova S O, Shaw P J, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert M H, Puck J M, Lankester A C, Notarangelo L D, Neven |
| Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease. Journal of clinical immunology 2023 5 . Wen-I Lee, Chien-Chang Chen, Shih-Hsiang Chen, Wan-Tz Lai, Tang-Her Jaing, Liang-Shiou Ou, Chi-Jou Liang, Chen-Chen Kang, Jing-Long Hua |
| Whole exon capture sequencing for identifying mutations associated with pulmonary benign metastasising leiomyoma. BMJ case reports 2023 3 16 (3): . Hu Zhijun, Liu Kaijiang, Liu Qing, Zhu Ho |
| Immunological and molecular study in children with combined immunodeficiency. European annals of allergy and clinical immunology 2023 2 . Kholoussi S, Ramadan A, Kholoussi N, Ashaat E A, Fayez A G, Raouf H A, Helwa I, Esmaiel N N, Ghorab R, Abo-Shanab A |
| DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
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