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 aHUS: state of the art

CM Nester, T Barbour, SR de Cordoba… - Molecular …, 2015 - Elsevier
Tremendous advances in our understanding of the thrombotic microangiopathies (TMAs)
have revealed distinct disease mechanisms within this heterogeneous group of diseases. As …

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 …

[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 …

Atypical hemolytic‐uremic syndrome: an update on pathophysiology, diagnosis, and treatment

R Raina, V Krishnappa, T Blaha, T Kann… - Therapeutic …, 2019 - Wiley Online Library
Atypical hemolytic uremic syndrome (aHUS), a rare variant of thrombotic microangiopathy, is
characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal …

[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 …

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 …

Thrombotic microangiopathy and associated renal disorders

T Barbour, S Johnson, S Cohney… - Nephrology Dialysis …, 2012 - academic.oup.com
Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia,
microangiopathic haemolytic anaemia and microvascular occlusion. TMA is common to …

Hemolytic uremic syndrome in pregnancy and postpartum

A Bruel, D Kavanagh, M Noris, Y Delmas… - Clinical Journal of the …, 2017 - journals.lww.com
Background Pregnancy is associated with various forms of thrombotic microangiopathy,
including hemolytic uremic syndrome. A previous small French study suggested that …

[HTML][HTML] Patients with hypertension-associated thrombotic microangiopathy may present with complement abnormalities

SA Timmermans, MA Abdul-Hamid, J Vanderlocht… - Kidney international, 2017 - Elsevier
Thrombotic microangiopathy (TMA) is a pattern of endothelial damage that can be found in
association with diverse clinical conditions such as malignant hypertension. Although the …