Ribosomopathies: New Therapeutic Perspectives

by Emilien Orgebin, François Lamoureux, Bertrand Isidor, Céline Charrier, Benjamin Ory, Frédéric Lézot, Marc Baud’huin
Published 2020-09-01

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

by Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor, Borut Peterlin
Published 2018-06-01

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

by Vincent Gatinois, Romain Desprat, Fabienne Becker, Lydiane Pichard, Florence Bernex, Bertrand Isidor, Franck Pellestor, Jean-Marc Lemaitre
Published 2020-03-01

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

by Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor
Published 2021-03-01

MAN1B1-CDG: Three new individuals and associated biochemical profiles

by Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel
Published 2021-09-01

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

by Joana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, Vincent Junod, Aline Habegger, Aurélie Pain, Sonia Richetin, Paola Yu, Bertrand Isidor, Lionel Van Maldergem, Linda Pons, Sabine Manificat, Nadia Chabane, Marine Jequier Gygax, Anne Manuela Maillard
Published 2021-02-01

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

by Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Published 2019-07-01

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

by Affef Abidi, Jérôme J. Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine De La Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaetan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn
Published 2015-08-01

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

by Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Published 2016-01-01

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

by Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Published 2017-07-01

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

by Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Published 2021-09-01

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

by Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Aurélien Palmyre, Alexandre Moerman, Annick Toutain, Linda Akloul, Anne-Claire Brehin, Caroline Sawka, Caroline Rooryck-Thambo, Elise Schaefer, Karine Nguyen, Delphine Dupin Deguine, Cécile Rouzier, Gipsy Billy, Krystelle Séné, Isabelle Denjoy, Bruno Leheup, Marc Planes, Jean-Michael Mazzella, Stéphanie Staraci, Mélanie Hebert, Elsa Le Boette, Claire-Cécile Michon, Marie-Lise Babonneau, Angélique Curjol, Amine Bekhechi, Rafik Mansouri, Ibticem Raji, Jean-François Pruny, Véronique Fressart, Flavie Ader, Pascale Richard, Sophie Tezenas du Montcel, Marcela Gargiulo, Philippe Charron
Published 2020-05-01