Bertrand Chesneau

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Venues

European journal of human genetics : EJHG

International journal of molecular sciences

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

Centre Hospitalier Universitaire de Toulouse

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centre Hospitalier Universitaire de Toulouse Nov 01 2017

France

Interne :: Service de Génétique Médicale

Publications

Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia. International journal of molecular sciences 25 (5) (2024)
Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia. International journal of molecular sciences 25 (5) (2024)
Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia. International journal of molecular sciences 25 (5) (2024)
Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau, Sandra Whalen, Diana Rodriguez, Séverine Audebert-Bellanger, Pauline Marzin, Sarah Grotto, Isabelle Perthus, Richard James Holt, Dorine A Bax, Nicola Ragge, Nicolas Chassaing
Clinical, genetic and biochemical signatures of RBP4 -related ocular malformations. Journal of medical genetics (2023)
Mélissa Santorini, Bertrand Chesneau, Patricia Koskas-Boublil, Florence Metge, Georges Caputo, Nicolas Chassaing, Gilles Martin, Julie Plaisancié
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. American journal of medical genetics. Part A (2023)
Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares-Taie, Jean-Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie-Bitach, Cécile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent-Delorme, Odile Boute, Clemence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton-Pérez, Laurence Bouneau, Cédric Le Caignec, Véronique Gaston, Claire Jeanton-Scaramouche, Delphine Dupin-Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical genetics 101 (5-6) (2022)
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Veronique Gaston, Fréderic Escudié, Godelieve Morel, Yline Capri, Catherine Vincent-Delorme, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. European journal of human genetics : EJHG (2022)
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Veronique Gaston, Fréderic Escudié, Godelieve Morel, Yline Capri, Catherine Vincent-Delorme, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. European journal of human genetics : EJHG (2022)
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Nicolas Chassaing, Christine Coubes, Elise Brischoux-Boucher, Thomas Edouard, Yves Dulac, Marion Aubert-Mucca, Thierry Lavabre-Bertrand, Julie Plaisancié, Philippe Khau Van Kien
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders. European journal of human genetics : EJHG 29 (5) (2021)
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert-Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre-Bertrand, Philippe Khau Van Kien
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus. Molecular genetics & genomic medicine 9 (11) (2021)
Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Molecular genetics & genomic medicine 8 (5) (2020)

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Publication Activity (10 Years)

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Bertrand Chesneau