Publications by authors named "Betty Gardie"

33Publications

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

Authors:
Mathilde Filser Muriel Giansily-Blaizot Mélanie Grenier David Monedero Alonso Guillaume Bouyer Laurent Peres Stéphane Egée Bernard Aral Fabrice Airaud Lydie M Da Costa Veronique Picard Pierre Cougoul Marlène Palach Stephane Bezieau Céline Garrec Patricia Aguilar Martinez Betty Gardie François Girodon

Blood 2020 Nov 12. Epub 2020 Nov 12.

Laboratoire d'Excellence GR-EX, France.

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November 2020

[Nobel Prize 2019: awarding to the discoverers of cell adaptation to oxygen sensing].

Authors:
Betty Gardie Stéphane Richard

Rev Prat 2020 01;70(1):17-19

École pratique des hautes études, PSL Research University, Paris, France.

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January 2020

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Authors:
Antoine Geay Bernard Aral Valentin Bourgeois Pauline Martin Fabrice Airaud Céline Garrec Stéphane Bézieau Betty Gardie François Girodon

Clin Case Rep 2020 May 21;8(5):790-792. Epub 2020 Mar 21.

Service d'Hématologie Biologique Pôle Biologie CHU de Dijon Dijon France.

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May 2020

Can absolute polycythaemia be identified without measurement of the red cell mass?

Authors:
Mélanie Grenier Davide Callegarin Mathilde Nughe Betty Gardie Jean Marc Riedinger François Girodon

Br J Haematol 2020 Jul 19;190(2):e107-e110. Epub 2020 May 19.

Service d'Hématologie Biologique, Pôle Biologie, CHU de Dijon, Dijon, France.

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July 2020

Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients.

Authors:
Lucilla Fabbri Maeva Dufies Sandra Lacas-Gervais Betty Gardie Sophie Gad-Lapiteau Julien Parola Nicolas Nottet Monique Meyenberg Cunha de Padua Julie Contenti Delphine Borchiellini Jean-Marc Ferrero Nathalie Rioux Leclercq Damien Ambrosetti Baharia Mograbi Stéphane Richard Julien Viotti Emmanuel Chamorey Nirvana Sadaghianloo Matthieu Rouleau William J Craigen Bernard Mari Stéphan Clavel Gilles Pagès Jacques Pouysségur Frédéric Bost Nathalie M Mazure

Theranostics 2020 3;10(6):2696-2713. Epub 2020 Feb 3.

Université Côte d'Azur (UCA), CNRS-UMR 7284-Inserm U1081, IRCAN, Centre Antoine Lacassagne, 33 Ave. de Valombrose, 06189 Nice, France.

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February 2020

Low incidence of mutations in idiopathic erythrocytosis.

Authors:
Mathilde Filser Bernard Aral Fabrice Airaud Aurélie Chauveau Aisha Bruce Yann Polfrit Anne Thiebaut Martin Gauthier Cédric Le Maréchal Eric Lippert Stéphane Béziau Céline Garrec Betty Gardie François Girodon

Haematologica 2021 01 1;106(1):299-301. Epub 2021 Jan 1.

Pole Biologie, Laboratory of Excellence GR-Ex, Université de Bourgogne, Dijon.

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January 2021

Germline mutations in the new E1' cryptic exon of the gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Authors:
Alexandre Buffet Bruna Calsina Shahida Flores Sophie Giraud Marion Lenglet Pauline Romanet Elisa Deflorenne Javier Aller Isabelle Bourdeau Brigitte Bressac-de Paillerets María Calatayud Caroline Dehais Erwan De Mones Del Pujol Atanaska Elenkova Philippe Herman Peter Kamenický Sophie Lejeune Jean Louis Sadoul Anne Barlier Stephane Richard Judith Favier Nelly Burnichon Betty Gardie Patricia L Dahia Mercedes Robledo Anne-Paule Gimenez-Roqueplo

J Med Genet 2020 Nov 29;57(11):752-759. Epub 2020 Jan 29.

Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France.

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November 2020

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Authors:
Thomas Besnard Natacha Sloboda Alice Goldenberg Sébastien Küry Benjamin Cogné Flora Breheret Eva Trochu Solène Conrad Marie Vincent Wallid Deb Xavier Balguerie Sébastien Barbarot Geneviève Baujat Tawfeg Ben-Omran Anne-Claire Bursztejn Virginie Carmignac Alexandre N Datta Aline Delignières Laurence Faivre Betty Gardie Jean-Louis Guéant Paul Kuentz Marion Lenglet Marie-Cécile Nassogne Vincent Ramaekers Rhonda E Schnur Yue Si Erin Torti Julien Thevenon Pierre Vabres Lionel Van Maldergem Dorothea Wand Arnaud Wiedemann Bertrand Cariou Richard Redon Antonin Lamazière Stéphane Bézieau Francois Feillet Bertrand Isidor

Genet Med 2019 09 6;21(9):2025-2035. Epub 2019 Feb 6.

CHU de Nantes, Service de Génétique Médicale, Nantes, France.

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September 2019

High HFE mutation incidence in idiopathic erythrocytosis.

Authors:
Bénédicte Burlet Valentin Bourgeois Céline Buriller Bernard Aral Fabrice Airaud Céline Garrec Stéphane Bézieau Betty Gardie François Girodon

Br J Haematol 2019 05 8;185(4):794-795. Epub 2018 Nov 8.

Service d'Hématologie Biologique, Pôle Biologie, CHU de Dijon, Dijon, France.

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May 2019

Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.

Authors:
Charles-Henry Gattolliat Sophie Couvé Guillaume Meurice Cédric Oréar Nathalie Droin Mathieu Chiquet Sophie Ferlicot Virginie Verkarre Viorel Vasiliu Vincent Molinié Arnaud Méjean Philippe Dessen Sophie Giraud Brigitte Bressac-De-Paillerets Betty Gardie Bin Tean Teh Stéphane Richard Sophie Gad

Int J Oncol 2018 Oct 19;53(4):1455-1468. Epub 2018 Jul 19.

Oncogenetics Laboratory, EPHE, PSL Research University, 75014 Paris, France.

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October 2018

Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Authors:
Marion Lenglet Florence Robriquet Klaus Schwarz Carme Camps Anne Couturier David Hoogewijs Alexandre Buffet Samantha J L Knight Sophie Gad Sophie Couvé Franck Chesnel Mathilde Pacault Pierre Lindenbaum Sylvie Job Solenne Dumont Thomas Besnard Marine Cornec Helene Dreau Melissa Pentony Erika Kvikstad Sophie Deveaux Nelly Burnichon Sophie Ferlicot Mathias Vilaine Jean-Michaël Mazzella Fabrice Airaud Céline Garrec Laurence Heidet Sabine Irtan Elpis Mantadakis Karim Bouchireb Klaus-Michael Debatin Richard Redon Stéphane Bezieau Brigitte Bressac-de Paillerets Bin Tean Teh François Girodon Maria-Luigia Randi Maria Caterina Putti Vincent Bours Richard Van Wijk Joachim R Göthert Antonis Kattamis Nicolas Janin Celeste Bento Jenny C Taylor Yannick Arlot-Bonnemains Stéphane Richard Anne-Paule Gimenez-Roqueplo Holger Cario Betty Gardie

Blood 2018 08 11;132(5):469-483. Epub 2018 Jun 11.

École Pratique des Hautes Études, PSL Research University, Paris, France.

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August 2018

Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels.

Authors:
Mark A Catherwood Amy Graham Robert J G Cuthbert Celine Garrec Betty Gardie François Girodon Sophie Laird Nicholas C P Cross Mary Frances McMullin

Acta Haematol 2018;139(4):217-219. Epub 2018 May 30.

Clinical Haematology, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, United Kingdom.

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March 2019

Update on hypoxia-inducible factors and hydroxylases in oxygen regulatory pathways: from physiology to therapeutics.

Authors:
Peter Ratcliffe Peppi Koivunen Johanna Myllyharju Jiannis Ragoussis Judith Vmg Bovée Ines Batinic-Haberle Claire Vinatier Valérie Trichet Florence Robriquet Lisa Oliver Betty Gardie

Hypoxia (Auckl) 2017 15;5:11-20. Epub 2017 Mar 15.

CRCINA, INSERM, Université de Nantes, Nantes; Ecole Pratique des Hautes Etudes, PSL Research University, Paris, France.

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March 2017

Gene panel sequencing in idiopathic erythrocytosis.

Authors:
François Girodon Fabrice Airaud Céline Garrec Stéphane Bézieau Betty Gardie

Haematologica 2017 01;102(1):e30

Ecole Pratique des Hautes Etudes (EPHE), PSL Research University, France.

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January 2017

Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.

Authors:
Victoria Perrier-Trudova Bernice Wong Huimin Sarinya Kongpetch Dachuan Huang Pauline Ong Audrey Le Formal Song Ling Poon Ee Yan Siew Swe Swe Myint Sophie Gad Betty Gardie Sophie Couvé Yu Miin Foong Yukti Choudhury Jonathan Poh Choon Kiat Ong Chee Keong Toh Aikseng Ooi Stéphane Richard Min-Han Tan Bin Tean Teh

Anticancer Res 2015 Dec;35(12):6639-53

Division of Medical Sciences, National Cancer Centre Singapore, Singapore, Republic of Singapore Division of Cancer and Stem Cell Biology, Duke-NUS Graduate Medical School, Singapore, Republic of Singapore

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December 2015

Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Authors:
Corine Bertolotto Fabienne Lesueur Sandy Giuliano Thomas Strub Mahaut de Lichy Karine Bille Philippe Dessen Benoit d'Hayer Hamida Mohamdi Audrey Remenieras Eve Maubec Arnaud de la Fouchardière Vincent Molinié Pierre Vabres Stéphane Dalle Nicolas Poulalhon Tanguy Martin-Denavit Luc Thomas Pascale Andry-Benzaquen Nicolas Dupin Françoise Boitier Annick Rossi Jean-Luc Perrot Bruno Labeille Caroline Robert Bernard Escudier Olivier Caron Laurence Brugières Simon Saule Betty Gardie Sophie Gad Stéphane Richard Jérôme Couturier Bin Tean Teh Paola Ghiorzo Lorenza Pastorino Susana Puig Celia Badenas Hakan Olsson Christian Ingvar Etienne Rouleau Rosette Lidereau Philippe Bahadoran Philippe Vielh Eve Corda Hélène Blanché Diana Zelenika Pilar Galan Valérie Chaudru Gilbert M Lenoir Mark Lathrop Irwin Davidson Marie-Françoise Avril Florence Demenais Robert Ballotti Brigitte Bressac-de Paillerets

Nature 2016 Mar 2;531(7592):126. Epub 2015 Dec 2.

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March 2016

Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation.

Authors:
Sylvie Hermouet Edith Bigot-Corbel Betty Gardie

Mediators Inflamm 2015 11;2015:145293. Epub 2015 Oct 11.

Inserm UMR 892, CNRS UMR 6299, Centre de Recherche en Cancérologie Nantes-Angers, Institut de Recherche en Santé, Université de Nantes, 44007 Nantes, France ; Ecole Pratique des Hautes Etudes, Laboratoire de Génétique Oncologique, 44007 Nantes, France.

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August 2016

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

Authors:
Sophie Couvé Charline Ladroue Elodie Laine Karène Mahtouk Justine Guégan Sophie Gad Hélène Le Jeune Marion Le Gentil Gregory Nuel William Y Kim Bernard Lecomte Jean-Christophe Pagès Christine Collin Françoise Lasne Patrick R Benusiglio Brigitte Bressac-de Paillerets Jean Feunteun Vladimir Lazar Anne-Paule Gimenez-Roqueplo Nathalie M Mazure Philippe Dessen Luba Tchertanov David R Mole William Kaelin Peter Ratcliffe Stéphane Richard Betty Gardie

Cancer Res 2014 Nov 4;74(22):6554-64. Epub 2014 Nov 4.

Laboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), Villejuif, France. Unité Mixte de Recherche (UMR) INSERM U892, CNRS 6299, Centre de Recherche en Cancérologie Nantes/Angers (CRCNA), Université de Nantes, Nantes, France.

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November 2014

ITPR1 protects renal cancer cells against natural killer cells by inducing autophagy.

Authors:
Yosra Messai Muhammad Zaeem Noman Meriem Hasmim Bassam Janji Andrés Tittarelli Marie Boutet Véronique Baud Elodie Viry Katy Billot Arash Nanbakhsh Thouraya Ben Safta Catherine Richon Sophie Ferlicot Emmanuel Donnadieu Sophie Couve Betty Gardie Florence Orlanducci Laurence Albiges Jerome Thiery Daniel Olive Bernard Escudier Salem Chouaib

Cancer Res 2014 Dec 8;74(23):6820-32. Epub 2014 Oct 8.

INSERM U753, Villejuif, France.

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December 2014

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Authors:
Betty Gardie Melanie J Percy David Hoogewijs Rasheduzzaman Chowdhury Celeste Bento Patrick R Arsenault Stéphane Richard Helena Almeida Joanne Ewing Frédéric Lambert Mary Frances McMullin Christopher J Schofield Frank S Lee

Hypoxia (Auckl) 2014 1;2:71-90. Epub 2014 Jul 1.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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July 2014