Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: Hemolytic-Uremic Syndrome and CFH[original query] |
---|
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006 Aug 108 (4): 1267-79. Caprioli Jessica, Noris Marina, Brioschi Simona, Pianetti Gaia, Castelletti Federica, Bettinaglio Paola, Mele Caterina, Bresin Elena, Cassis Linda, Gamba Sara, Porrati Francesca, Bucchioni Sara, Monteferrante Giuseppe, Fang Celia J, Liszewski M K, Kavanagh David, Atkinson John P, Remuzzi Giuseppe, |
Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms. Molecular diagnosis & therapy 2006 10 (5): 303-10. Bíró Adrienn, Prohászka Zoltán, Füst George, Blaskó Bernade |
Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: prognostic significance of genetic background. Clinical journal of the American Society of Nephrology : CJASN 2006 Jan 1 (1): 88-99. Bresin Elena, Daina Erica, Noris Marina, Castelletti Federica, Stefanov Rumen, Hill Prudence, Goodship Timothy H J, Remuzzi Giuseppe, |
Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study. Genes and immunity 2008 Apr 9 (3): 231-9. Xing C, Sivakumaran T A, Wang J J, Rochtchina E, Joshi T, Smith W, Mitchell P, Iyengar S |
Thrombomodulin mutations in atypical hemolytic-uremic syndrome. The New England journal of medicine 2009 Jul 361 (4): 345-57. Delvaeye Mieke, Noris Marina, De Vriese Astrid, Esmon Charles T, Esmon Naomi L, Ferrell Gary, Del-Favero Jurgen, Plaisance Stephane, Claes Bart, Lambrechts Diether, Zoja Carla, Remuzzi Giuseppe, Conway Edward |
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 |
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Annals of human genetics 2010 Jan 74 (1): 17-26. Sullivan Maren, Erlic Zoran, Hoffmann Michael M, Arbeiter Klaus, Patzer Ludwig, Budde Klemens, Hoppe Bernd, Zeier Martin, Lhotta Karl, Rybicki Lisa A, Bock Andreas, Berisha Gani, Neumann Hartmut P |
Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort. PLoS medicine 2011 Mar 8 (3): e1001013. Salmon Jane E, Heuser Cara, Triebwasser Michael, Liszewski M Kathryn, Kavanagh David, Roumenina Lubka, Branch D Ware, Goodship Tim, Fremeaux-Bacchi Veronique, Atkinson John |
Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus. Arthritis research & therapy 2011 13 (6): R206. Jönsen Andreas, Nilsson Sara C, Ahlqvist Emma, Svenungsson Elisabet, Gunnarsson Iva, Eriksson Karin G, Bengtsson Anders, Zickert Agneta, Eloranta Maija-Leena, Truedsson Lennart, Rönnblom Lars, Nordmark Gunnel, Sturfelt Gunnar, Blom Anna |
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature genetics 2011 Dec 43 (12): 1232-6. Raychaudhuri Soumya, Iartchouk Oleg, Chin Kimberly, Tan Perciliz L, Tai Albert K, Ripke Stephan, Gowrisankar Sivakumar, Vemuri Soumya, Montgomery Kate, Yu Yi, Reynolds Robyn, Zack Donald J, Campochiaro Betsy, Campochiaro Peter, Katsanis Nicholas, Daly Mark J, Seddon Johanna |
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Clinical journal of the American Society of Nephrology : CJASN 2013 Mar 8 (3): 407-15. Hofer Johannes, Janecke Andreas R, Zimmerhackl L B, Riedl Magdalena, Rosales Alejandra, Giner Thomas, Cortina Gerard, Haindl Carola J, Petzelberger Barbara, Pawlik Miriam, Jeller Verena, Vester Udo, Gadner Bettina, van Husen Michael, Moritz Michael L, Würzner Reinhard, Jungraithmayr Therese, |
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, |
Atypical hemolytic uremic syndrome: Korean pediatric series. Pediatrics international : official journal of the Japan Pediatric Society 2015 Jun 57 (3): 431-8. Lee Jiwon M, Park Young Seo, Lee Joo Hoon, Park Se Jin, Shin Jae Il, Park Yong-Hoon, Yoo Kee Hwan, Cho Min Hyun, Kim Su-Young, Kim Seong Heon, Namgoong Mee Kyung, Lee Seung Joo, Lee Jun Ho, Cho Hee Yeon, Han Kyoung Hee, Kang Hee Gyung, Ha Il Soo, Bae Jun-Seok, Kim Nayoung K D, Park Woong-Yang, Cheong Hae |
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 |
The clinical and laboratory features of Chinese Han anti-factor H autoantibody-associated hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2016 12 32 (5): 811-822. Song Di, Liu Xiao-Rong, Chen Zhi, Xiao Hui-Jie, Ding Jie, Sun Shu-Zhen, Liu Hong-Yan, Guo Wei-Yi, Wang Su-Xia, Yu Feng, Zhao Ming-Hui, |
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 |
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 |
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 |
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 |
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 |
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, , |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
- Content source: