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In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
Valéna Karaghiannis
,
Darko Maric
,
Céline Garrec
,
Nada Maaziz
,
Alexandre Buffet
,
et al.
Journal articles
hal-04031832v1
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Update on hypoxia-inducible factors and hydroxylases in oxygen regulatory pathways: from physiology to therapeutics
Peter Ratcliffe
,
Peppi Koivunen
,
Johanna Myllyharju
,
Jiannis Ragoussis
,
Judith Vmg Bovée
,
et al.
Journal articles
inserm-01845039v1
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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel- Lindau disease spectrum or with paraganglioma
Alexandre Buffet
,
Bruna Calsina
,
Shahida Flores
,
Sophie Giraud
,
Marion Lenglet
,
et al.
Journal articles
hal-02484923v1
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FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
Amandine Caillaud
,
Antoine Lévêque
,
Aurélie Thédrez
,
Aurore Girardeau
,
Robin Canac
,
et al.
Journal articles
hal-04060050v1
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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
Marion Lenglet
,
Florence Robriquet
,
Klaus Schwarz
,
Carme Camps
,
Anne Couturier
,
et al.
Journal articles
hal-01833917v1
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Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels
Mark A. Catherwood
,
Amy Graham
,
Robert J. G. Cuthbert
,
Céline Garrec
,
Betty Gardie
,
et al.
Journal articles
hal-01818466v1
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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Nada Maaziz
,
Céline Garrec
,
Fabrice Airaud
,
Victor Bobée
,
Nathalie Contentin
,
et al.
Journal articles
hal-04208496v1
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Gene panel sequencing in idiopathic erythrocytosis
François Girodon
,
Fabrice Airaud
,
Céline Garrec
,
Stéphane Bézieau
,
Betty Gardie
Journal articles
hal-01491715v1
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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients
Lucilla Fabbri
,
Maeva Dufies
,
Sandra Lacas-Gervais
,
Betty Gardie
,
Sophie Gad-Lapiteau
,
et al.
Journal articles
hal-03429100v1
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High HFE mutation incidence in idiopathic erythrocytosis
Bénédicte Burlet
,
Valentin Bourgeois
,
Céline Buriller
,
Bernard Aral
,
Fabrice Airaud
,
et al.
Journal articles
hal-01919082v1
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