Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 39 Records) |
| Query Trace: Syndrome and CFH[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 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, |
| Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2013 Mar 13 (3): 663-75. Le Quintrec M, Zuber J, Moulin B, Kamar N, Jablonski M, Lionet A, Chatelet V, Mousson C, Mourad G, Bridoux F, Cassuto E, Loirat C, Rondeau E, Delahousse M, Frémeaux-Bacchi |
| Factors determining penetrance in familial atypical haemolytic uraemic syndrome. Journal of medical genetics 2014 Nov 51 (11): 756-64. Sansbury Francis H, Cordell Heather J, Bingham Coralie, Bromilow Gilly, Nicholls Anthony, Powell Roy, Shields Bev, Smyth Lucy, Warwicker Paul, Strain Lisa, Wilson Valerie, Goodship Judith A, Goodship Timothy H J, Turnpenny Peter |
| 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 |
| Association of systemic lupus erythematosus susceptibility genes with IgA nephropathy in a Chinese cohort. Clinical journal of the American Society of Nephrology : CJASN 2014 Apr 9 (4): 788-97. Zhou Xu-Jie, Cheng Fa-Juan, Zhu Li, Lv Ji-Cheng, Qi Yuan-Yuan, Hou Ping, Zhang Ho |
| 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 |
| Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome. Frontiers in immunology 2021 3 12 641656. Gómez Delgado Irene, Corvillo Fernando, Nozal Pilar, Arjona Emilia, Madrid Álvaro, Melgosa Marta, Bravo Juan, Szilágyi Ágnes, Csuka Dorottya, Veszeli Nóra, Prohászka Zoltán, Sánchez-Corral Pil |
| CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome. Frontiers in immunology 2021 3 12 608723. Yang Ming Ming, Sun Hong Yan, Meng Ting, Qiu Shan Hu, Zeng Qi Qiao, Ng Tsz Kin, Jiang Li, Deng Ting Ming, Zeng Ai Neng, Wang Jun, Luo Xiao Li |
| Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection. Current issues in molecular biology 2022 7 44 (7): 2811-2824. Gavriilaki Eleni, Tsiftsoglou Stefanos A, Touloumenidou Tasoula, Farmaki Evangelia, Panagopoulou Paraskevi, Michailidou Elissavet, Koravou Evaggelia-Evdoxia, Mavrikou Ioulia, Iosifidis Elias, Tsiatsiou Olga, Papadimitriou Eleni, Papadopoulou-Alataki Efimia, Papayanni Penelope Georgia, Varelas Christos, Kokkoris Styliani, Papalexandri Apostolia, Fotoulaki Maria, Galli-Tsinopoulou Assimina, Zafeiriou Dimitrios, Roilides Emmanuel, Sakellari Ioanna, Anagnostopoulos Achilles, Tragiannidis Athanasi |
| Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil? Pediatric nephrology (Berlin, Germany) 2023 12 . Neslihan Günay, ?smail Dursun, ?brahim Gökçe, Mehtap Akbal?k Kara, Demet Tekcan, Neslihan Çiçek, Meral Torun Bayram, Mustafa Koyun, Nida Dinçel, Hasan Dursun, Seha Sayg?l?, Zeynep Nagehan Yürük Y?ld?r?m, Selçuk Yüksel, Osman Dönmez, Sibel Yel, Beltinge Demircio?lu K?l?ç, Özlem Aydo?, Bahriye Atm??, Aysun Çalt?k Y?lmaz, Sevcan A Bakkalo?lu, Mehmet Baha Aytaç, Mehmet Ta?demir, Belde Kasap Demir, Alper Soylu, Elif Çomak, Asl? Kantar Öz?ahin, Alper Kaçar, Nur Canpolat, Alev Y?lmaz, ?lknur Giri?gen, Kadirye Betül Akkoyunlu, Harika Alpay, Hakan M Poyrazo? |
| Increased Complement Activation and Decreased ADAMTS13 Activity Are Associated with Genetic Susceptibility in Patients with Preeclampsia/HELLP Syndrome Compared to Healthy Pregnancies: An Observational Case-Controlled Study. Journal of personalized medicine 2024 4 14 (4): . Theodora-Maria Venou, Evangelia Vetsiou, Christos Varelas, Angelos Daniilidis, Kyriakos Psarras, Evaggelia-Evdoxia Koravou, Maria Koutra, Tasoula Touloumenidou, Vasilis Tsolakidis, Apostolia Papalexandri, Fani Minti, Evdokia Mandala, Konstantinos Dinas, Efthymia Vlachaki, Eleni Gavriila |
| 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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