Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and LRBA[original query] |
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| Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders. Clinical immunology (Orlando, Fla.) 2015 Oct 160 (2): 301-14. van Schouwenburg Pauline A, Davenport Emma E, Kienzler Anne-Kathrin, Marwah Ishita, Wright Benjamin, Lucas Mary, Malinauskas Tomas, Martin Hilary C, , Lockstone Helen E, Cazier Jean-Baptiste, Chapel Helen M, Knight Julian C, Patel Smita |
| Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Frontiers in immunology 2016 7 220. Maffucci Patrick, Filion Charles A, Boisson Bertrand, Itan Yuval, Shang Lei, Casanova Jean-Laurent, Cunningham-Rundles Charlot |
| A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia 2018 2 61 (4): 862-869. Johnson Matthew B, Patel Kashyap A, De Franco Elisa, Houghton Jayne A L, McDonald Timothy J, Ellard Sian, Flanagan Sarah E, Hattersley Andrew |
| 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 Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. Clinical and translational gastroenterology 2020 Feb 11 (2): e00129. Ashton James J, Mossotto Enrico, Stafford Imogen S, Haggarty Rachel, Coelho Tracy A F, Batra Akshay, Afzal Nadeem A, Mort Matthew, Bunyan David, Beattie Robert Mark, Ennis Sar |
| Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology 2020 2 158 (8): 2208-2220. Crowley Eileen, Warner Neil, Pan Jie, Khalouei Sam, Elkadri Abdul, Fiedler Karoline, Foong Justin, Turinsky Andrei L, Bronte-Tinkew Dana, Zhang Shiqi, Hu Jamie, Tian David, Li Dalin, Horowitz Julie, Siddiqui Iram, Upton Julia, Roifman Chaim M, Church Peter C, Wall Donna A, Ramani Arun K, Kotlarz Daniel, Klein Christoph, Uhlig Holm, Snapper Scott B, Gonzaga-Jauregui Claudia, Paterson Andrew D, McGovern Dermot P B, Brudno Michael, Walters Thomas D, Griffiths Anne M, Muise Aleixo |
| Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort. Gastroenterology 2020 Dec . Gettler Kyle, Levantovsky Rachel, Moscati Arden, Giri Mamta, Wu Yiming, Hsu Nai-Yun, Chuang Ling-Shiang, Sazonovs Aleksejs, Venkateswaran Suresh, Korie Ujunwa, Chasteau Colleen, , Duerr Richard H, Silverberg Mark S, Snapper Scott B, Daly Mark J, McGovern Dermot P, Brant Steven R, Kugathasan Subra, Anderson Carl A, Itan Yuval, Cho Judy |
| Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. Immunological investigations 2020 11 51 (2): 381-394. Salami Fereshte, Fekrvand Saba, Yazdani Reza, Shahkarami Sepideh, Azizi Gholamreza, Bagheri Yasser, Delavari Samaneh, Shariati Sahar, Mahdaviani Seyed Alireza, Nabavi Mohammamd, Shirkani Afshin, Abolhassani Hassan, Samadi Morteza, Aghamohammadi Asgh |
| Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients. World journal of clinical cases 2021 8 9 (21): 5873-5888. Tang Wen-Juan, Hu Wen-Hui, Huang Ying, Wu Bing-Bing, Peng Xiao-Min, Zhai Xiao-Wen, Qian Xiao-Wen, Ye Zi-Qing, Xia Hai-Jiao, Wu Jie, Shi Jie- |
| Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 3 32 (6): 1335-1348. Azizi Gholamreza, Tavakol Marzieh, Yazdani Reza, Delavari Samaneh, Moeini Shad Tannaz, Rasouli Seyed Erfan, Jamee Mahnaz, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Mohammadi Javad, Hassanpour Gholamreza, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Behniafard Nasrin, Nabavi Mohammad, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Alyasin Soheila, Jabbari-Azad Farahzad, Ghaffari Javad, Mesdaghi Mehrnaz, Ahanchian Hamid, Khoshkhui Maryam, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Nasiri Kalmarzi Rasoul, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Fallahpour Morteza, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahimi Haji-Abadi Maziyar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Salami Fereshte, Shirmast Paniz, Bazargan Nasrin, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Shokri Sima, Nabavizadeh Seyed Hesamedin, Bazregari Saeed, Ghasemi Ramin, Bayat Shiva, Eshaghi Hamid, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population. Journal of clinical immunology 2022 9 43 (1): 151-164. Freund Tal, Baxter Sarah K, Walsh Tom, Golan Hana, Kapelushnik Joseph, Abramsohn-Goldenberg Michal, Benor Shira, Sarid Nadav, Ram Ron, Alcalay Yifat, Segel Reeval, Renbaum Paul, Stepensky Polina, King Mary-Claire, Torgerson Troy R, Hagin Dav |
| Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study. Frontiers in immunology 2022 1 12 786516. Rojas-Restrepo Jessica, Caballero-Oteyza Andrés, Huebscher Katrin, Haberstroh Hanna, Fliegauf Manfred, Keller Baerbel, Kobbe Robin, Warnatz Klaus, Ehl Stephan, Proietti Michele, Grimbacher Bo |
| 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 |
| Clinical characteristics of early-onset paediatric systemic lupus erythematosus in a single centre in China. Rheumatology (Oxford, England) 2023 2 . Hou Yipei, Wang Li, Luo Chong, Tang Wenjing, Dai Rongxin, An Yunfei, Tang Xuem |
| The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages. Journal of clinical immunology 2023 2 . Azizi Gholamreza, Hesari Mina Fattah, Sharifinejad Niusha, Fayyaz Farimah, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Alan Mahnaz Seifi, Jamee Mahnaz, Tavakol Marzieh, Sadri Homa, Shahrestanaki Ehsan, Nabavi Mohammad, Ebrahimi Sareh Sadat, Shirkani Afshin, Vosughi Motlagh Ahmad, Delavari Samaneh, Rasouli Seyed Erfan, Esmaeili Marzie, Salami Fereshte, Yazdani Reza, Rezaei Nima, Abolhassani Hass |
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