Norwalk virus infection associates with secretor status genotyped from sera
AM Hutson, F Airaud, J LePendu… - Journal of medical …, 2005 - Wiley Online Library
ABO histo‐blood group type and secretor status are two genetically determined factors that
contribute to resistance and susceptibility to Norwalk virus (NV). Archived serum samples …
contribute to resistance and susceptibility to Norwalk virus (NV). Archived serum samples …
Influence of the Combined ABO, FUT2 and FUT3 Polymorphism on Susceptibility to Norwalk Virus Attachment
S Marionneau, F Airaud, NV Bovin… - The Journal of …, 2005 - academic.oup.com
The binding of Norwalk virus (NV) recombinant capsids was tested in a panel of saliva
samples collected from 96 donors with different ABO, secretor, and Lewis phenotypes. As …
samples collected from 96 donors with different ABO, secretor, and Lewis phenotypes. As …
Novel Brugada SCN5A Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads
F Potet, P Mabo, G Le Coq, V Probst… - Journal of …, 2003 - Wiley Online Library
SCN5A Mutation and ST Segment Elevation in Inferior Leads. Mutations in the SCN5A gene
can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular …
can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular …
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
M Lenglet, F Robriquet, K Schwarz… - Blood, The Journal …, 2018 - ashpublications.org
Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a
homozygous p. Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this …
homozygous p. Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this …
[HTML][HTML] Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …
Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis
M Filser, M Giansily-Blaizot, M Grenier… - Blood, The Journal …, 2021 - ashpublications.org
Erythrocytosis and polycythemia are generic terms for red cell diseases characterized by an
increase in hematocrit (Ht) and/or hemoglobin (Hb) concentrations. They can be acquired as …
increase in hematocrit (Ht) and/or hemoglobin (Hb) concentrations. They can be acquired as …
[HTML][HTML] Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis
M Delamare, A Le Roy, M Pacault, L Schmitt… - …, 2023 - ncbi.nlm.nih.gov
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red
blood cell production. Here we describe a European collaborative study involving a …
blood cell production. Here we describe a European collaborative study involving a …
[HTML][HTML] Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
V Karaghiannis, D Maric, C Garrec, N Maaziz… - …, 2023 - ncbi.nlm.nih.gov
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with
hereditary erythrocytosis that can be associated with the development of paraganglioma …
hereditary erythrocytosis that can be associated with the development of paraganglioma …
[HTML][HTML] Low incidence of EPOR mutations in idiopathic erythrocytosis
M Filser, B Aral, F Airaud, A Chauveau, A Bruce… - …, 2021 - ncbi.nlm.nih.gov
Since the discovery of JAK2 mutations, the etiological diagnosis of erythrocytosis has been
greatly facilitated. When positive, the diagnosis of polycythemia vera (PV) is highly probable; …
greatly facilitated. When positive, the diagnosis of polycythemia vera (PV) is highly probable; …
[HTML][HTML] Mapping clinicopathological entities within colorectal mucinous adenocarcinomas: a hierarchical clustering approach
C Liddell, L Droy-Dupré, S Métairie, F Airaud… - Modern Pathology, 2017 - Elsevier
The aim of this study was to interrogate the heterogeneity of colorectal mucinous
adenocarcinomas. This study is based on hierarchical clustering approach combining …
adenocarcinomas. This study is based on hierarchical clustering approach combining …