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Brigitte Gilbert-Dussardier
Researcher at University of Poitiers
Publications - 110
Citations - 6124
Brigitte Gilbert-Dussardier is an academic researcher from University of Poitiers. The author has contributed to research in topics: Gene & Mutation. The author has an hindex of 36, co-authored 99 publications receiving 4973 citations. Previous affiliations of Brigitte Gilbert-Dussardier include French Institute of Health and Medical Research & University of Limoges.
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Journal ArticleDOI
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Darío G. Lupiáñez,Darío G. Lupiáñez,Katerina Kraft,Katerina Kraft,Verena Heinrich,Peter Krawitz,Peter Krawitz,Francesco Brancati,Eva Klopocki,Denise Horn,Hülya Kayserili,John M. Opitz,Renata Laxova,Fernando Santos-Simarro,Fernando Santos-Simarro,Brigitte Gilbert-Dussardier,Lars Wittler,Marina Borschiwer,Stefan A. Haas,Marco Osterwalder,Martin Franke,Martin Franke,Bernd Timmermann,Jochen Hecht,Jochen Hecht,Malte Spielmann,Malte Spielmann,Axel Visel,Axel Visel,Axel Visel,Stefan Mundlos,Stefan Mundlos +31 more
TL;DR: The results demonstrate the functional importance of TADs for orchestrating gene expression via genome architecture and indicate criteria for predicting the pathogenicity of human structural variants, particularly in non-coding regions of the human genome.
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Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output
Sophie Dupuis-Girod,Isabelle Ginon,Jean-Christophe Saurin,Denis Marion,Elsa Guillot,Evelyne Decullier,Adeline Roux,Marie-France Carette,Brigitte Gilbert-Dussardier,Pierre-Yves Hatron,P. Lacombe,Bernard Lorcerie,Sophie Rivière,Romain Corre,Sophie Giraud,Sabine Bailly,Gilles Paintaud,David Ternant,Pierre-Jean Valette,Henri Plauchu,Frédéric Faure +20 more
TL;DR: Administration of bevacizumab was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in patients with HHT associated with severe hepatic vascular malformations and high cardiac output.
Journal ArticleDOI
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien,Françoise Bonnet,Françoise Bonnet,Véronique Brouste,Stéphanie Hoppe,Emmanuelle Barouk-Simonet,Albert David,Patrick Edery,Armand Bottani,Valérie Layet,Olivier Caron,Brigitte Gilbert-Dussardier,Capucine Delnatte,Catherine Dugast,Jean-Pierre Fricker,Dominique Bonneau,Nicolas Sevenet,Nicolas Sevenet,Michel Longy,Michel Longy,Frédéric Caux +20 more
TL;DR: This study shows a considerably high cumulative risk of cancer for patients with PHTS, mainly in women without clear genotype–phenotype correlation for this cancer risk.
Journal ArticleDOI
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Gaetan Lesca,Carla Olivieri,Nelly Burnichon,Fabio Pagella,Marie-France Carette,Brigitte Gilbert-Dussardier,Cyril Goizet,Joelle Roume,Muriel Rabilloud,Jean-Christophe Saurin,Vincent Cottin,Jérôme Honnorat,Florence Coulet,Sophie Giraud,Alain Calender,Cesare Danesino,Elisabetta Buscarini,Henri Plauchu +17 more
TL;DR: This study shows major differences between HHT1 and HHT2 phenotypes, which should be taken into account for future clinical studies.
Journal ArticleDOI
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
Darci T. Butcher,Cheryl Cytrynbaum,Andrei L. Turinsky,Michelle T. Siu,Michal Inbar-Feigenberg,Roberto Mendoza-Londono,David Chitayat,Susan Walker,Jerry Machado,Oana Caluseriu,Lucie Dupuis,Daria Grafodatskaya,William Reardon,Brigitte Gilbert-Dussardier,Alain Verloes,Frédéric Bilan,Jeff M. Milunsky,Raveen K. Basran,Blake C. Papsin,Tracy Stockley,Stephen W. Scherer,Sanaa Choufani,Michael Brudno,Rosanna Weksberg +23 more
TL;DR: Analysis of the DNAm targets in each gene-specific signature identified both common gene targets, including homeobox A5 (HOXA5), which could account for some of the clinical overlap in CHARGE and Kabuki syndromes, as well as distinct gene targets.