Results 251 to 260 of about 10,430,018 (295)

Phenotyping and Genotyping of Coagulation Factor V Leiden

Thrombosis and Haemostasis, 1996
SummaryThe currently used activated Protein C resistance test demonstrated to be of limited diagnostic value for the detection of the mutant Factor V Leiden. Moreover, this assay is not useful for patients under anticoagulant therapy. A modification of the APC resistance test, applying Factor V deficient plasma is described which demonstrates a ...
H, Engel, L, Zwang, H H, van Vliet, J J, Michiels, J, Stibbe, J, Lindemans   +5 more
openaire   +2 more sources

Genotype–phenotype study in type V osteogenesis imperfecta

Clinical Dysmorphology, 2013
Type V osteogenesis imperfecta (OI) presents with moderate-to-severe skeletal deformity and is characterized by hyperplastic callus formation at fracture sites and calcification of the interosseous membranes of the forearm and lower leg. The facial dysmorphism is not well characterized and has not been described in previous reports.
Balasubramanian Meena, Parker Michael J, Dalton Ann, Giunta Cecilia, Lindert Uschi, Peres Luiz C, Wagner Bart E, Arundel Paul, Offiah Amaka, Bishop Nicholas J   +9 more
openaire   +3 more sources

Factor V Leiden Homozygous Genotype and Pregnancy Outcomes

Obstetric Anesthesia Digest, 2009
To assess the rate of early (first trimester) and late (second and third trimester) fetal loss in women who are factor V Leiden homozygous.Between December 1995 and February 2007, consecutive, unrelated white women who were factor V Leiden homozygous and who had been pregnant at least once were recruited from 10 French hemostasis units.
Biron-Andréani, Christine, Bauters, Anne, Le Cam-Duchez, Véronique, Delahousse, Bénédicte, Lequerrec, Agnès, Dutrillaux, Fabienne, Boinot, Catherine, Saladin-Thiron, Catherine, Polack, Benoit, Gruel, Yves, Morange, Pierre-Emmanuel   +10 more
openaire   +4 more sources

Phenotype and genotype expression in pseudohomozygous R2 factor V

Blood, 2001
Factor Va is the important cofactor for prothrombinase. Factor Va is inactivated by activated protein C (APC) following 3 cleavages of the heavy chain at Arg306, Arg506, and Arg679.[1][1]Cleavage of normal factor Va by APC at these sites results in the production of Mr 45 000, Mr 30 000, Mr ...
KALAFATIS M, SIMIONI P, BERNARDI, Francesco   +2 more
openaire   +3 more sources

Risks of thrombosis: genotype and phenotype of blood coagulation factor V

Russian Journal for Personalized Medicine, 2022
The review is devoted to the key component of plasma hemostasis — blood coagulation factor V. The structure of this protein and the F5 gene encoding it, its role in the hemostasis system, interaction with other coagulation factors and the natural anticulant protein C are considered.
O. V. Sirotkina, A. S. Ulitina, M. V. Kolegova, E. A. Tsykalenko, A. B. Maslennikov, T. V. Vavilova   +5 more
openaire   +1 more source