Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Records 1 - 30 (of 46 Records) |
| Query Trace: Atypical Hemolytic Uremic Syndrome[original query] |
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| No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome. International journal of hematology 2016 Aug 104 (2): 223-7. Miyata Toshiyuki, Uchida Yumiko, Yoshida Yoko, Kato Hideki, Matsumoto Masanori, Kokame Koichi, Fujimura Yoshihiro, Nangaku Masao |
| Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome. American journal of nephrology 2016 Apr 43 (3): 160-169. Zhang Tao, Lu Jianping, Liang Shaoshan, Chen Dachen, Zhang Haitao, Zeng Caihong, Liu Zhihong, Chen Huim |
| Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations. Clinical and experimental nephrology 2017 9 22 (3): 653-660. Thergaonkar R W, Narang Ankita, Gurjar Bahadur Singh, Tiwari Pradeep, Puraswani Mamta, Saini Himanshi, Sinha Aditi, Varma Binuja, Mukerji Mitali, Hari Pankaj, Bagga Arvi |
| [Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2017 8 55 (8): 624-627. Yi C L, Zhao F, Qiu H Z, Wang L M, Huang J, Nie X J, Yu Z |
| Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Nov . Larsen Christopher P, Wilson Jon D, Best-Rocha Alejandro, Beggs Marjorie L, Hennigar Randolph |
| Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2017 10 29 (1): 240-249. Goicoechea de Jorge Elena, Tortajada Agustín, García Sheila Pinto, Gastoldi Sara, Merinero Héctor Martín, García-Fernández Jesús, Arjona Emilia, Cao Mercedes, Remuzzi Giuseppe, Noris Marina, Rodríguez de Córdoba Santia |
| Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. Genes and immunity 2018 7 20 (6): 520-526. Kernan Kate F, Ghaloul-Gonzalez Lina, Shakoory Bita, Kellum John A, Angus Derek C, Carcillo Joseph |
| Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing. Research and practice in thrombosis and haemostasis 2018 7 1 (1): 69-80. Fidalgo Teresa, Martinho Patrícia, Pinto Catarina S, Oliveira Ana C, Salvado Ramon, Borràs Nina, Coucelo Margarida, Manco Licínio, Maia Tabita, Mendes M João, Del Orbe Barreto Rafael, Corrales Irene, Vidal Francisco, Ribeiro M Letíc |
| High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B. Frontiers in immunology 2018 9 848. Pouw Richard B, Gómez Delgado Irene, López Lera Alberto, Rodríguez de Córdoba Santiago, Wouters Diana, Kuijpers Taco W, Sánchez-Corral Pil |
| Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome. Clinical kidney journal 2018 4 11 (2): 198-203. Khandelwal Priyanka, Birla Shweta, Bhatia Divya, Puraswani Mamta, Saini Himanshi, Sinha Aditi, Hari Pankaj, Sharma Arundhati, Bagga Arvi |
| Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome. Clinical and experimental nephrology 2018 3 22 (5): 1088-1099. Fujisawa Madoka, Kato Hideki, Yoshida Yoko, Usui Tomoko, Takata Munenori, Fujimoto Mika, Wada Hideo, Uchida Yumiko, Kokame Koichi, Matsumoto Masanori, Fujimura Yoshihiro, Miyata Toshiyuki, Nangaku Masao |
| Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. Journal of immunology (Baltimore, Md. : 1950) 2018 3 200 (7): 2464-2478. Osborne Amy J, Breno Matteo, Borsa Nicolo Ghiringhelli, Bu Fengxiao, Frémeaux-Bacchi Véronique, Gale Daniel P, van den Heuvel Lambertus P, Kavanagh David, Noris Marina, Pinto Sheila, Rallapalli Pavithra M, Remuzzi Giuseppe, Rodríguez de Cordoba Santiago, Ruiz Angela, Smith Richard J H, Vieira-Martins Paula, Volokhina Elena, Wilson Valerie, Goodship Timothy H J, Perkins Stephen |
| Germline mutations in the alternative pathway of complement predispose to HELLP syndrome. JCI insight 2018 Mar 3 (6): . Vaught Arthur J, Braunstein Evan M, Jasem Jagar, Yuan Xuan, Makhlin Igor, Eloundou Solange, Baines Andrea C, Merrill Samuel A, Chaturvedi Shruti, Blakemore Karin, Sperati C John, Brodsky Robert |
| A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis. BMC nephrology 2018 12 19 (1): 355. Tao Jianling, Lieberman Jonathan, Lafayette Richard A, Kambham Neera |
| Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2018 11 29 (12): 2809-2819. Bu Fengxiao, Zhang Yuzhou, Wang Kai, Borsa Nicolo Ghiringhelli, Jones Michael B, Taylor Amanda O, Takanami Erika, Meyer Nicole C, Frees Kathy, Thomas Christie P, Nester Carla, Smith Richard J |
| Impact of a Complement Factor H Gene Variant on Renal Dysfunction, Cardiovascular Events, and Response to ACE Inhibitor Therapy in Type 2 Diabetes. Frontiers in genetics 2019 10 681. Valoti Elisabetta, Noris Marina, Perna Annalisa, Rurali Erica, Gherardi Giulia, Breno Matteo, Parvanova Ilieva Aneliya, Petrov Iliev Ilian, Bossi Antonio, Trevisan Roberto, Dodesini Alessandro Roberto, Ferrari Silvia, Stucchi Nadia, Benigni Ariela, Remuzzi Giuseppe, Ruggenenti Pie |
| Severe and malignant hypertension are common in primary atypical hemolytic uremic syndrome. Kidney international 2019 May . Cavero Teresa, Arjona Emilia, Soto Karina, Caravaca-Fontán Fernando, Rabasco Cristina, Bravo Luis, de la Cerda Francisco, Martín Nadia, Blasco Miquel, Ávila Ana, Huerta Ana, Cabello Virginia, Jarque Ana, Alcázar Concepción, Fulladosa Xavier, Carbayo Javier, Anaya Sara, Cobelo Carmen, Ramos Natalia, Iglesias Elena, Baltar José, Martínez-Gallardo Rocío, Pérez Lourdes, Morales Enrique, González Roberto, Macía Manuel, Draibe Juliana, Pallardó Luis, Quintana Luis F, Espinosa Mario, Barros Xoana, Pereira Fernando, Cao Mercedes, Moreno Juan Antonio, Rodríguez de Córdoba Santiago, Praga Manuel, |
| Outcomes of Kidney Transplant Patients with Atypical Hemolytic Uremic Syndrome Treated with Eculizumab: A Systematic Review and Meta-Analysis. Journal of clinical medicine 2019 6 8 (7): . Gonzalez Suarez Maria L, Thongprayoon Charat, Mao Michael A, Leeaphorn Napat, Bathini Tarun, Cheungpasitporn Wis |
| Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study. Clinical journal of the American Society of Nephrology : CJASN 2019 Jan . Frémeaux-Bacchi Véronique, Sellier-Leclerc Anne-Laure, Vieira-Martins Paula, Limou Sophie, Kwon Theresa, Lahoche Annie, Novo Robert, Llanas Brigitte, Nobili François, Roussey Gwenaëlle, Cailliez Mathilde, Ulinski Tim, Deschênes Georges, Alberti Corinne, Weill François-Xavier, Mariani Patricia, Loirat Chant |
| Distinct genetic profile with recurrent population-specific missense variants in Korean adult atypical hemolytic uremic syndrome. Thrombosis research 2020 11 194 45-53. Yun Jae Won, Oh Jisu, Lee Ki-O, Lee Seon Ju, Kim Jung Oh, Kim Nam Keun, Kim Jin Seok, Koh Youngil, Yoon Sung-Soo, Yhim Ho-Young, Jo Sang-Kyung, Park Yong, Lee Jung Eun, Park Jinny, Lee Jong Wook, Kim Sun-Hee, Kim Hee-Jin, Oh Doyeun, , |
| Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy. Journal of the American Society of Nephrology : JASN 2020 1 31 (2): 365-373. Levine Adam P, Chan Melanie M Y, Sadeghi-Alavijeh Omid, Wong Edwin K S, Cook H Terence, Ashford Sofie, Carss Keren, Christian Martin T, Hall Matthew, Harris Claire Louise, McAlinden Paul, Marchbank Kevin J, Marks Stephen D, Maxwell Heather, Megy Karyn, Penkett Christopher J, Mozere Monika, Stirrups Kathleen E, Tuna Salih, Wessels Julie, Whitehorn Deborah, , , Johnson Sally A, Gale Daniel |
| Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study. Nephron 2021 4 145 (4): 415-427. Wu Dan, Chen Jiahui, Ling Chen, Chen Zhi, Fan Jianfeng, Sun Qiang, Meng Qun, Liu Xiaoro |
| Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatric nephrology (Berlin, Germany) 2021 11 37 (7): 1567-1574. Xiao Hongbo, Hildebrandt Friedhe |
| Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy. Journal of molecular medicine (Berlin, Germany) 2021 10 100 (2): 269-284. Haydock Ludwig, Garneau Alexandre P, Tremblay Laurence, Yen Hai-Yun, Gao Hanlin, Harrisson Raphaël, Isenring Pa |
| Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease. Kidney360 2022 4 1 (8): 772-780. Wilson Parker C, Love-Gregory Latisha, Corliss Meagan, McNulty Samantha, Heusel Jonathan W, Gaut Joseph |
| Genetic investigation of Nordic patients with complement-mediated kidney diseases. Frontiers in immunology 2023 9 14 1254759. Viktor Rydberg, Sigridur Sunna Aradottir, Ann-Charlotte Kristoffersson, Naila Svitacheva, Diana Karpm |
| A single-center experience of post-transplant atypical hemolytic uremic syndrome. Clinical nephrology 2023 6 . Bassam G Abu Jawdeh, Muhammad A Kh |
| Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy. Blood cancer journal 2023 2 13 (1): 31. Moscvin Maria, Liacos Christine Ivy, Chen Tianzeng, Theodorakakou Foteini, Fotiou Despina, Hossain Shahrier, Rowell Sean, Leblebjian Houry, Regan Eileen, Czarnecki Peter, Bagnoli Filippo, Bolli Niccolo', Richardson Paul, Rennke Helmut G, Dimopoulos Meletios A, Kastritis Efstathios, Bianchi Gia |
| "Eculizumab First" in the Management of Posttransplant Thrombotic Microangiopathy. Kidney international reports 2024 5 9 (4): 982-993. Federica Maritati, Valeria Corradetti, Claudia Bini, Michele Provenzano, Vania Cuna, Marco Busutti, Francesco Tondolo, Fulvia Zappulo, Gisella Vischini, Francesca Iacovella, Chiara Abenavoli, Greta Borelli, Marcello Demetri, Benedetta Fabbrizio, Giorgia Radi, Matteo Ravaioli, Caterina Mele, Gaetano La Manna, Giorgia Com |
| Anti-factor B antibodies in atypical hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2024 1 . Priyanka Khandelwal, Shreesha Nambiar, Rahul Saini, Savita Saini, Poonam Coshic, Aditi Sinha, Pankaj Hari, Jayanth Kumar Palanichamy, Arvind Bag |
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