Search Results - Bertrand Isidor

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  1. 1

    Ribosomopathies: New Therapeutic Perspectives by Emilien Orgebin, François Lamoureux, Bertrand Isidor, Céline Charrier, Benjamin Ory, Frédéric Lézot, Marc Baud’huin

    Published in Cells (2020-09-01)
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  2. 2

    Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives by Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein

    Published in Genes and Diseases (2024-11-01)
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  3. 3

    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 in Stem Cell Research (2020-03-01)
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  4. 4

    Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms? by Virginie Vignard, Alban-Elouen Baruteau, Alban-Elouen Baruteau, Alban-Elouen Baruteau, Bérénice Toutain, Sandra Mercier, Sandra Mercier, Bertrand Isidor, Bertrand Isidor, Richard Redon, Jean-Jacques Schott, Sébastien Küry, Sébastien Küry, Stéphane Bézieau, Stéphane Bézieau, Anne H. Monsoro-Burq, Anne H. Monsoro-Burq, Anne H. Monsoro-Burq, Frédéric Ebstein

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  5. 5

    Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss by Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

    Published in Diagnostics (2022-01-01)
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  6. 6

    Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts by Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, 16p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond

    Published in npj Genomic Medicine (2023-05-01)
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  7. 7

    Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review by Romain Dalla-Torre, Romain Dalla-Torre, Vincent Crenn, Pierre Menu, Pierre Menu, Pierre Menu, Pierre Menu, Bertrand Isidor, Pascale Guillot, Benoit Le Goff, Loic Geffroy, Marc Dauty, Marc Dauty, Marc Dauty, Marc Dauty, Alban Fouasson-Chailloux, Alban Fouasson-Chailloux, Alban Fouasson-Chailloux, Alban Fouasson-Chailloux

    Published in Frontiers in Medicine (2022-01-01)
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  8. 8

    Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly by Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin

    Published in Communications Biology (2024-07-01)
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  9. 9

    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

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  10. 10

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation by Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux

    Published in Human Genomics (2023-02-01)
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  11. 11

    Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis by Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Pascal de Groote, Laurence Faivre, Patricia Reant, Annick Toutain, Karine Nguyen, Bertrand Isidor, Anne-Claire Brehin, Lise Legrand, Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard, Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes, Bruno Francou, Catherine Caillaud, Pascale Richard, Philippe Charron

    Published in Orphanet Journal of Rare Diseases (2025-06-01)
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  12. 12

    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 in Neurobiology of Disease (2015-08-01)
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  13. 13

    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 in PLoS ONE (2016-01-01)
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  14. 14

    P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder by Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier

    Published in Genetics in Medicine Open (2024-01-01)
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  15. 15

    Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients by Jean Donadieu, Marie Lamant, Claire Fieschi, Flore Sicre de Fontbrune, Aurélie Caye, Marie Ouachee, Blandine Beaupain, Jacinta Bustamante, Hélène A. Poirel, Bertrand Isidor, Eric Van Den Neste, Antoine Neel, Stanislas Nimubona, Fabienne Toutain, Vincent Barlogis, Nicolas Schleinitz, Thierry Leblanc, Pierre Rohrlich, Felipe Suarez, Dana Ranta, Wadih Abou Chahla, Bénédicte Bruno, Louis Terriou, Sylvie Francois, Bruno Lioure, Guido Ahle, Françoise Bachelerie, Claude Preudhomme, Eric Delabesse, Hélène Cave, Christine Bellanné-Chantelot, Marlène Pasquet

    Published in Haematologica (2018-08-01)
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  16. 16

    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 in Acta Neuropathologica Communications (2021-09-01)
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  17. 17

    LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder by James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden

    Published in HGG Advances (2024-10-01)
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  18. 18

    Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool by Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Ange-Line Bruel, Ange-Line Bruel, Antonio Vitobello, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Mathilde Nizon, Sandra Mercier, Sandra Mercier, Marie Vincent, Marie Vincent, Bertrand Isidor, Bertrand Isidor, Jeanne Amiel, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Yannis Duffourd, Christophe Philippe, Christophe Philippe, Laurence Faivre, Laurence Faivre, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet

    Published in Frontiers in Genetics (2023-03-01)
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  19. 19

    Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnosticsResearch in context by Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat, Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll, Natalie Canham, Ajoy Sarkar, Yuri A. Zarate, Bert Callewaert, Ewelina Bukowska-Olech, Aleksander Jamsheer, Andreas Zankl, Marjolaine Willems, Laura Duncan, Bertrand Isidor, Benjamin Cogne, Odile Boute, Clémence Vanlerberghe, Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard, Jeanne Amiel, Angela E. Lin, Christopher T. Gordon, Dan Doherty, Peter M. Krawitz, Rosanna Weksberg, Tzung-Chien Hsieh, Brian H.Y. Chung

    Published in EBioMedicine (2025-05-01)
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  20. 20

    Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome by Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

    Published in npj Genomic Medicine (2024-03-01)
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