Zobrazeno 1 - 10
of 226
pro vyhledávání: '"P Sirugo"'
Autor:
Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Demetrios Ofidis, Sarah Howe, Rajia Mim, Hannah Griffin, Dominique Fetzer, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, JoEllen Weaver, Katherine L. Nathanson, Daniel J. Rader, Angela R. Bradbury
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100346- (2024)
Summary: Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a t
Externí odkaz:
https://doaj.org/article/edde831edd684ca4b063e29b4c08d9d3
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Beyond initial discovery of a pathogenic variant, establishing that a variant is recurrently associated with disease is important for understanding clinical impact and disease etiology. Disappointingly, our ability to characterize pathogenicity under
Externí odkaz:
https://doaj.org/article/0e260ebdd65d42bb82c6f9901fc1181b
Autor:
Angela Bradbury, Elisabeth Wood, Lillian Phung, Brian Egleston, Demetrios Ofidis, Rajia Mim, Sarah Howe, Lily Hoffman-Andrews, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, Joellen Weaver, Katherine Nathanson, Daniel Rader
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101794- (2024)
Externí odkaz:
https://doaj.org/article/e14c65f401684f6f80a6367b6f342409
Akademický článek
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Akademický článek
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Autor:
Michele Malagù, Filomena Longo, Federico Marchini, Paolo Sirugo, Andrea Capanni, Stefano Clò, Elisa Mari, Martina Culcasi, Matteo Bertini
Publikováno v:
Biology, Vol 12, Iss 4, p 491 (2023)
Background. Patients with β-thalassemia have a high incidence of atrial fibrillation (AF) and other supraventricular arrhythmias. The use of non-vitamin K antagonist oral anticoagulants (NOACs) for thromboembolic prophylaxis in patients with β-thal
Externí odkaz:
https://doaj.org/article/e54814d3801c43d4a9585412c9d780e9
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Michael L McHenry, Jacquelaine Bartlett, Robert P Igo, Eddie M Wampande, Penelope Benchek, Harriet Mayanja-Kizza, Kyle Fluegge, Noemi B Hall, Sebastien Gagneux, Sarah A Tishkoff, Christian Wejse, Giorgio Sirugo, W Henry Boom, Moses Joloba, Scott M Williams, Catherine M Stein
Publikováno v:
PLoS Genetics, Vol 16, Iss 4, p e1008728 (2020)
Genetic studies of both the human host and Mycobacterium tuberculosis (MTB) demonstrate independent association with tuberculosis (TB) risk. However, neither explains a large portion of disease risk or severity. Based on studies in other infectious d
Externí odkaz:
https://doaj.org/article/1f2b4f7ef2014e068b5e31f09d69b027
Autor:
Kelvin M. Abuga, Kirk A. Rockett, John Muthii Muriuki, Oliver Koch, Manfred Nairz, Giorgio Sirugo, Philip Bejon, Dominic P. Kwiatkowski, Andrew M. Prentice, Sarah H. Atkinson
Publikováno v:
Wellcome Open Research, Vol 5 (2020)
Background: Anaemia is a major public health concern especially in African children living in malaria-endemic regions. Interferon-gamma (IFN-γ) is elevated during malaria infection and is thought to influence erythropoiesis and iron status. Genetic
Externí odkaz:
https://doaj.org/article/659e272faf9a476aaae6cb28f822a08e
Autor:
Michele Malagù, Federico Marchini, Alessio Fiorio, Paolo Sirugo, Stefano Clò, Elisa Mari, Maria Rita Gamberini, Claudio Rapezzi, Matteo Bertini
Publikováno v:
Biology, Vol 11, Iss 1, p 148 (2022)
Thalassemia is an inherited blood disorder with worldwide distribution. Transfusion and chelation therapy have radically improved the prognosis of β-thalassemic patients in the developed world, but this has led to the development of new chronic card
Externí odkaz:
https://doaj.org/article/c6df685bcf184868a0c2a8ca6125ad1b