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7 results on '"Barjol A"'

1. Auteurs et collaborateurs

Author

Quoc, Emmanuel Bui, primary, Gomez, Alain, additional, Roth, André, additional, Amar, Raphaël, additional, Colliot, Jean-Philippe, additional, Meslin, Dominique, additional, Rémy, Charles, additional, Vabres, Bertrand, additional, Arsene, Sophie, additional, Audren, François, additional, Aziz-Alessi, Aurore, additional, Balayn, Marie-Anne, additional, Barberie, Jean-Pierre, additional, Barjol, Amandine, additional, Barugel, Raphaël, additional, Beaujeux, Pauline, additional, Berger-Martinet, Alexandra, additional, Beylerian, Marie, additional, Blanc, Philippe, additional, Chazalon, Thierry, additional, Clergeau, Guy, additional, Cœuru, Dimitri, additional, Costet, Christine, additional, Dall'angelo Negler, Magalie, additional, Denis, Danièle, additional, Dorey, Françoise, additional, Dureau, Pascal, additional, Fauveau, Marc, additional, Fremont, Félix, additional, Guimond, Dimitri, additional, Hue, Bertrand, additional, Kallel, Sofiène, additional, Lassalle, David, additional, Le Bail, Béatrice, additional, Lehuede, Kévin, additional, Morvan, Mireille, additional, Nguyen, Diem, additional, Oger-Lavenant, Françoise, additional, Orignac, Isabelle, additional, Osswald, Delphine, additional, Pichereau, Laure, additional, Praud, Romain, additional, Robert, Matthieu, additional, Rousseau, Benoît, additional, Salefran, Étienne, additional, Santallier, Martine, additional, Speeg-Schatz, Claude, additional, Thouvenin, Dominique, additional, and Zanlonghi, Xavier, additional

Published
2022
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3. Les auteurs

Author

Espinasse-Berrod, Marie-Andrée, primary, Arsène, Sophie, additional, Audren, François, additional, Barjol, Amandine, additional, Beylerian, Marie, additional, de Bideran, Marie, additional, Bok-Beaube, Corinne, additional, Quoc, Emmanuel Bui, additional, Costet, Christine, additional, Couret, Chloé, additional, Creux, Charlotte, additional, Daien, Vincent, additional, Denier, Charlotte, additional, Denis, Danièle, additional, Gauthier, Laetitia, additional, Goberville, Mitra, additional, Héran, Françoise, additional, Lassalle, David, additional, Lebranchu, Pierre, additional, Le Meur, Guylène, additional, Milleret, Chantal, additional, Orssaud, Christophe, additional, Pech-Gourg, Grégoire, additional, Péchereau, Alain, additional, Robert, Matthieu, additional, Roth, André, additional, Santallier, Martine, additional, Speeg-Schatz, Claude, additional, Thouvenin, Dominique, additional, Vera, Liza, additional, and Voide, Nathalie, additional

Published
2018
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4. Auteurs et collaborateurs

Author

Emmanuel Bui Quoc, Alain Gomez, André Roth, Raphaël Amar, Jean-Philippe Colliot, Dominique Meslin, Charles Rémy, Bertrand Vabres, Sophie Arsene, François Audren, Aurore Aziz-Alessi, Marie-Anne Balayn, Jean-Pierre Barberie, Amandine Barjol, Raphaël Barugel, Pauline Beaujeux, Alexandra Berger-Martinet, Marie Beylerian, Philippe Blanc, Thierry Chazalon, Guy Clergeau, Dimitri Cœuru, Christine Costet, Magalie Dall'angelo Negler, Danièle Denis, Françoise Dorey, Pascal Dureau, Marc Fauveau, Félix Fremont, Dimitri Guimond, Bertrand Hue, Sofiène Kallel, David Lassalle, Béatrice Le Bail, Kévin Lehuede, Mireille Morvan, Diem Nguyen, Françoise Oger-Lavenant, Isabelle Orignac, Delphine Osswald, Laure Pichereau, Romain Praud, Matthieu Robert, Benoît Rousseau, Étienne Salefran, Martine Santallier, Claude Speeg-Schatz, Dominique Thouvenin, and Xavier Zanlonghi

Published
2022

6. Les auteurs

Author

Marie-Andrée Espinasse-Berrod, Sophie Arsène, François Audren, Amandine Barjol, Marie Beylerian, Marie de Bideran, Corinne Bok-Beaube, Emmanuel Bui Quoc, Christine Costet, Chloé Couret, Charlotte Creux, Vincent Daien, Charlotte Denier, Danièle Denis, Laetitia Gauthier, Mitra Goberville, Françoise Héran, David Lassalle, Pierre Lebranchu, Guylène Le Meur, Chantal Milleret, Christophe Orssaud, Grégoire Pech-Gourg, Alain Péchereau, Matthieu Robert, André Roth, Martine Santallier, Claude Speeg-Schatz, Dominique Thouvenin, Liza Vera, and Nathalie Voide

Published
2018

7. EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.

Author

Courdier C, Gemahling A, Guindolet D, Barjol A, Scaramouche C, Bouneau L, Calvas P, Martin G, Chassaing N, and Plaisancié J

Subjects
Eye Abnormalities, Eye Proteins genetics, Homeodomain Proteins genetics, Humans, Iris, Mutation, PAX6 Transcription Factor genetics, Paired Box Transcription Factors genetics, Pedigree, Repressor Proteins genetics, Aniridia genetics, Cataract congenital, Cataract genetics, Microphthalmos complications, Microphthalmos genetics
Abstract

Disruption of any of the ocular development steps can result in ocular defects such as microphthalmia, coloboma and anterior segment dysgeneses including aniridia and cataract. All of these anomalies can be isolated or seen in association with each other. Except for aniridia (almost exclusively due to PAX6 mutations), most of these congenital ocular malformations are related to a wide genetic heterogeneity, as hundreds of genes are implied in ocular development. Here we describe a patient presenting with bilateral microphthalmia, congenital cataract, corneal dystrophy and iris hypoplasia, associated with extra-ocular features, who underwent an analysis of 119 ocular development related genes. Genetic testing revealed the presence of two truncating variants in the EPHA2 gene. While EPHA2 mutations are mainly known to be responsible for isolated dominant congenital cataract, we report here the first case of complex anterior segment dysgenesis caused by a biallelic EPHA2 mutation. This gene should be screened in case of aniridia with a negative PAX6 testing, as the ocular features of our patient clearly mimic those of PAX6 mutated patients. This observation enlarges the phenotype associated with EPHA2 variations and rise the insight of a possible PAX6-EPHA2 interaction that needs further investigations. Moreover, despite a great variability in ocular and extra-ocular phenotypes, mutations type and inheritance pattern, a possible genotype-phenotype correlation can also be drawn for this gene., Competing Interests: Declaration of competing interest Authors declared no conflict of interest., (Copyright © 2022. Published by Elsevier Masson SAS.)

Published
2022
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