[HTML][HTML] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Atypical hemolytic–uremic syndrome

M Noris, G Remuzzi - New England Journal of Medicine, 2009 - Mass Medical Soc
The hemolytic–uremic syndrome, which is characterized by nonimmune hemolytic anemia,
thrombocytopenia, and renal impairment, occurs most frequently in young children. Most …

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults

V Fremeaux-Bacchi, F Fakhouri, A Garnier… - Clinical Journal of the …, 2013 - journals.lww.com
Results Onset of aHUS occurred as frequently during adulthood (58.4%) as during
childhood (41.6%). The percentages of patients who developed the disease were 23 …

STEC-HUS, atypical HUS and TTP are all diseases of complement activation

M Noris, F Mescia, G Remuzzi - Nature Reviews Nephrology, 2012 - nature.com
Haemolytic uraemic syndrome (HUS) and thrombotic thrombocytopaenic purpura (TTP) are
diseases characterized by microvascular thrombosis, with consequent thrombocytopaenia …

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …

[HTML][HTML] Atypical hemolytic uremic syndrome

D Kavanagh, TH Goodship, A Richards - Seminars in nephrology, 2013 - Elsevier
Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia,
thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease …

[HTML][HTML] Atypical hemolytic uremic syndrome

C Loirat, V Frémeaux-Bacchi - Orphanet journal of rare diseases, 2011 - Springer
Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia,
thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin …

[HTML][HTML] An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document

JM Campistol, M Arias, G Ariceta, M Blasco… - Nefrología (English …, 2015 - Elsevier
Haemolytic uraemic syndrome (HUS) is a clinical entity defined as the triad of nonimmune
haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying …

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

J Caprioli, M Noris, S Brioschi, G Pianetti, F Castelletti… - Blood, 2006 - ashpublications.org
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of
hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown …

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

EG de Jorge, CL Harris… - Proceedings of the …, 2007 - National Acad Sciences
Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children.
Mutations in one or more genes encoding complement-regulatory proteins have been …