Results 51 to 60 of about 15,400 (157)

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Factor V leiden increases plasma F1+2 levels both in normal and deep venous thrombosis subjects

Haematologica, 2000
BACKGROUND AND OBJECTIVE: A simple approach to understanding molecular mechanisms leading to thrombosis is the definition of how genetic factors influence biochemical parameters of coagulation.
F Mercuri, R Giacomello, F Puglisi, R Colaone, D Fabbro, MG Menegon, A Ceriello, F Gonano, G Damante   +8 more
doaj  

Frequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran [PDF]

Iranian Journal of Medical Sciences, 2009
Normal hemostasis requires balanced regulation of prothromboticand antithrombotic factors. Inherited alteration of factor Vand prothrombin gene, the G20210A mutation, increases the resistanceof factor V to degradation and booster production ofprothrombin
Javad Dehbozorgian, Abdolreza Afrasiabi, Majid Yavarian, Golam Reza Panahandeh Shahraki, Mehran Karimi, Mohammadreza Bordbar, Pier M. Mannucci   +6 more
doaj  

Early Cessation of Adjuvant Anti‐PD‐1 Therapy in Stage III and IV Melanoma

International Journal of Cancer, EarlyView.
ABSTRACT One year of adjuvant anti‐PD‐1 has improved disease‐free survival in Stage III melanoma. It is unknown whether shorter treatment duration affects outcomes. Real‐world data may help clarify this. In this retrospective observational study, patients with resected Stage III/IV melanoma receiving adjuvant anti‐PD‐1 in the Netherlands from 2018 to ...
Manja Bloem, Melissa M. de Meza, Cato D. M. Boreel, Maureen J. B. Aarts, Franchette W. P. J. van den Berkmortel, Christian U. Blank, Willeke A. M. Blokx, Marye J. Boers‐Sonderen, Han J. Bonenkamp, Jan Willem B. de Groot, John B. Haanen, Geke A. P. Hospers, Ellen Kapiteijn, Djura Piersma, Bart Rikhof, Lieke H. J. Simkens, Marion A. Stevense‐den Boer, Astrid A. M. van der Veldt, Karijn P. M. Suijkerbuijk, Alfonsus J. M. van den Eertwegh, Michel W. J. M. Wouters   +20 more
wiley   +1 more source

Factor V Leiden mutation investigated by amplification created restriction enzyme site (ACRES) in PNH patients with and without thrombosis

Haematologica, 1996
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemolytic anemia characterized by intravascular hemolysis, often associated with neutropenia and thrombocytopenia. Venous thrombosis, including the Budd-Chiari syndrome, is one of the major
K Nafa, M Bessler, P Mason, T Vulliamy, P Hillmen, H Castro-Malaspina, L Luzzatto   +6 more
doaj  

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Factor V Leiden mutation and the risk of venous thromboembolism in pregnant women

Haematologica, 2001
BACKGROUND AND OBJECTIVES: In this retrospective, single center, cohort study we assessed the risk of pregnancy-related venous thromboembolism (VTE) in women belonging to a large number of families identified because of a symptomatic proband with single ...
D Tormene, P Simioni, P Prandoni, S Luni, P Zerbinati, D Sartor, F Franz, A Girolami   +7 more
doaj  

Folklore Studies, Fieldwork and the Making of a Domestic Anthropology in Fin‐de‐Siècle Britain

History, EarlyView.
Abstract This article follows the ‘communities of knowledge‐making’ that formed around folklore collection at the end of the nineteenth century. Often regarded as eccentric or marginal figures in the history of human science, these collectors in fact engaged in lively and sophisticated discussions about the methodologies needed to study the mental ...
HARRY PARKER
wiley   +1 more source

Simultaneous detection of FV Q506 and prothrombin 20210 A variation by allele-specific PCR

Haematologica, 1999
BACKGROUND AND OBJECTIVE: Factor V Leiden is the most important risk factor for hereditary thromboembolism, whereas the mutation in the 3'-untranslated region of the prothrombin gene seems to be only a mild risk factor for thrombotic events. On the other
M Mitterer, AJ Lanthaler, W Mair, K Giacomuzzi, P Coser   +4 more
doaj  

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain.
Thita Chiasakul, Elizabeth De Jesus, Jiayi Tong, Yong Chen, Mark Crowther, David Garcia, Chatree Chai‐Adisaksopha, Steven R. Messé, Adam Cuker   +8 more
doaj   +1 more source