Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Syndrome and CD46[original query] |
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| Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. Molecular immunology 2007 Mar 44 (7): 1704-8. Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris |
| 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 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, , |
| 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 |
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