Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: Hemolytic-Uremic Syndrome and C3[original query] |
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Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clinical journal of the American Society of Nephrology : CJASN 2010 Oct 5 (10): 1844-59. Noris Marina, Caprioli Jessica, Bresin Elena, Mossali Chiara, Pianetti Gaia, Gamba Sara, Daina Erica, Fenili Chiara, Castelletti Federica, Sorosina Annalisa, Piras Rossella, Donadelli Roberta, Maranta Ramona, van der Meer Irene, Conway Edward M, Zipfel Peter F, Goodship Timothy H, Remuzzi Giusep |
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Human mutation 2010 Jun 31 (6): E1445-60. Maga Tara K, Nishimura Carla J, Weaver Amy E, Frees Kathy L, Smith Richard J |
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. Journal of the American Society of Nephrology : JASN 2013 Feb 24 (3): 475-86. Bresin Elena, Rurali Erica, Caprioli Jessica, Sanchez-Corral Pilar, Fremeaux-Bacchi Veronique, Rodriguez de Cordoba Santiago, Pinto Sheila, Goodship Timothy H J, Alberti Marta, Ribes David, Valoti Elisabetta, Remuzzi Giuseppe, Noris Marina, |
Complement mutations in diacylglycerol kinase-e-associated atypical hemolytic uremic syndrome. Clinical journal of the American Society of Nephrology : CJASN 2014 Sep 9 (9): 1611-9. Sánchez Chinchilla Daniel, Pinto Sheila, Hoppe Bernd, Adragna Marta, Lopez Laura, Justa Roldan Maria Luisa, Peña Antonia, Lopez Trascasa Margarita, Sánchez-Corral Pilar, Rodríguez de Córdoba Santia |
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration. PloS one 2014 9 (4): e94165. Duvvari Maheswara R, Paun Codrut C, Buitendijk Gabriëlle H S, Saksens Nicole T M, Volokhina Elena B, Ristau Tina, Schoenmaker-Koller Frederieke E, van de Ven Johannes P H, Groenewoud Joannes M M, van den Heuvel Lambertus P W J, Hofman Albert, Fauser Sascha, Uitterlinden André G, Klaver Caroline C W, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke |
A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan. PloS one 2015 10 (5): e0124655. Yoshida Yoko, Miyata Toshiyuki, Matsumoto Masanori, Shirotani-Ikejima Hiroko, Uchida Yumiko, Ohyama Yoshifumi, Kokubo Tetsuro, Fujimura Yoshihi |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2025 1 . Victoria Bocanegra, Mariana Luna, Valeria V Costantino, Andrea F Gil Lorenzo, Raul Marino, Roberto Miatello, Valeria Cacciamani, M Eugenia Benardon, Clara Pott Godoy, Sheila Pinto, Santiago Rodríguez de Córdoba, Patricia G Vall |
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