Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: Syndrome and CFHR1[original query] |
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The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of medical genetics 2009 Jul 46 (7): 447-50. Dragon-Durey M-A, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman W H, Frémeaux-Bacchi |
Investigation of modifier genes within copy number variations in Rett syndrome. Journal of human genetics 2011 Jul 56 (7): 508-15. Artuso Rosangela, Papa Filomena T, Grillo Elisa, Mucciolo Mafalda, Yasui Dag H, Dunaway Keith W, Disciglio Vittoria, Mencarelli Maria A, Pollazzon Marzia, Zappella Michele, Hayek Giuseppe, Mari Francesca, Renieri Alessandra, Lasalle Janine M, Ariani Frances |
Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations. International journal of immunogenetics 2012 Apr 39 (2): 110-3. Leban N, Abarrategui-Garrido C, Fariza-Requejo E, Amiñoso-Carbonero C, Pinto S, Chibani J B, Khelil A H, Sánchez-Corral |
Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome. Arthritis research & therapy 2012 14 (4): R185. Foltyn Zadura Anna, Zipfel Peter F, Bokarewa Maria I, Sturfelt Gunnar, Jönsen Andreas, Nilsson Sara C, Hillarp Andreas, Saxne Tore, Trouw Leendert A, Blom Anna |
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, |
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 |
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 |
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 |
Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. Viruses 2019 Jul 11 (8): . Ribeiro Grazielle Esteves, Leon Luis Edgardo, Perez Ruth, Cuiza Analia, Vial Pablo Agustin, Ferres Marcela, Mertz Gregory J, Vial Cecil |
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 |
High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome. Nephrology (Carlton, Vic.) 2021 11 27 (3): 231-237. Kandari Sharon, Chakurkar Vipul, Gaikwad Snehal, Agarwal Meenal, Phadke Nikhil, Lobo Valenti |
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 |
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 |
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 |
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