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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Thrombocytopenia and CFH[original query]
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
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,
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
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,
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, ,
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