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authFullName_s : Betty Gardie

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.
Blood, 2022, 140 (Supplement 1), pp.8157-8158. ⟨10.1182/blood-2022-163123⟩
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.
Hypoxia, 2017, 5, pp.11 - 20. ⟨10.2147/HP.S127042⟩
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 of Medical Genetics, 2020, pp.1 - 8. ⟨10.1136/jmedgenet-2019-106519⟩
Journal articles hal-02484923v1

FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells

Amandine Caillaud , Antoine Lévêque , Aurélie Thédrez , Aurore Girardeau , Robin Canac , et al.
STAR Protocols, 2022, 3 (4), pp.101680. ⟨10.1016/j.xpro.2022.101680⟩
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.
Blood, 2018, 132 (5), pp.469-483. ⟨10.1182/blood-2018-03-838235⟩
Journal articles hal-01833917v1

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.
Acta Haematologica, 2018, 139 (4), pp.217 - 219. ⟨10.1159/000489006⟩
Journal articles hal-01818466v1

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Nada Maaziz , Céline Garrec , Fabrice Airaud , Victor Bobée , Nathalie Contentin , et al.
Genes, 2023, 14 (5), pp.1066. ⟨10.3390/genes14051066⟩
Journal articles hal-04208496v1

Gene panel sequencing in idiopathic erythrocytosis

François Girodon , Fabrice Airaud , Céline Garrec , Stéphane Bézieau , Betty Gardie
Haematologica, 2017, 102 (1), pp.e30. ⟨10.3324/haematol.2016.158337⟩
Journal articles hal-01491715v1

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.
Theranostics, 2020, 10 (6), pp.2696-2713. ⟨10.7150/thno.41001⟩
Journal articles hal-03429100v1

High HFE mutation incidence in idiopathic erythrocytosis

Bénédicte Burlet , Valentin Bourgeois , Céline Buriller , Bernard Aral , Fabrice Airaud , et al.
British Journal of Haematology, In press, ⟨10.1111/bjh.15631⟩
Journal articles hal-01919082v1