Výsledky vyhledávání - Bertrand Isidor

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  1. 1
    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability Autor Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, Björn Menten

    Vydáno 2014
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  2. 2
    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Autor Marie Vincent, Justyna A. Karolak, Gail Deutsch, Tomasz Gambin, Edwina J. Popek, Bertrand Isidor, Przemysław Szafrański, Cédric Le Caignec, Paweł Stankiewicz

    Vydáno 2019
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  3. 3
    Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

    Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes Autor Corinne Collet, Agnès Ostertag, Manon Ricquebourg, Marine Delecourt, Giulia Tueur, Bertrand Isidor, Pascale V. Guillot, Élise Schaefer, Rose‐Marie Javier, Thomas Funck‐Brentano, Philippe Orcel, Jean Laplanche, Martine Cohen‐Solal

    Vydáno 2017
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  4. 4
    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome Autor Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

    Vydáno 2014
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  5. 5
    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment Autor Angélique Quartier, Jérémie Courraud, Thuong Ha, George McGillivray, Bertrand Isidor, Katherine Rose, Nathalie Drouot, Marie‐Armel Savidan, Claire Feger, Hélène Jagline, Jamel Chelly, Marie Shaw, Frédéric Laumonnier, Jozef Gécz, Jean‐Louis Mandel, Amélie Piton

    Vydáno 2019
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  6. 6
    Novel <i>SUZ12</i> mutations in Weaver‐like syndrome

    Novel <i>SUZ12</i> mutations in Weaver‐like syndrome Autor Eri Imagawa, Edoarda Vasco de Albuquerque Albuquerque, Bertrand Isidor, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Margaret Cristina da Silva Boguszewski, César Luiz Boguszewski, Antônio Marcondes Lerário, Mariana A. Funari, Alexander A.L. Jorge, Naomichi Matsumoto

    Vydáno 2018
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  7. 7
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients Autor Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    Vydáno 2011
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  8. 8
    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions Autor Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M.A. Verhagen, Alexander A.L. Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Emilio A. Martı́nez, Anne O’Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, David S. Francis, Natasha J. Brown

    Vydáno 2025
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  9. 9
    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype Autor Éric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, S. Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laurent Pasquier, Bertrand Isidor, S. Ferkal, Jean Soulier, Marc Sanson, Anne Dieux‐Coëslier, Ivan Bièche, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Meena Upadhyaya, Dominique Vidaud

    Vydáno 2010
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  10. 10
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A Autor Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    Vydáno 2015
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  11. 11
    Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

    Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View Autor Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin Brian Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy A. Stevens, Kenichi Suga, Martin Zenker, Raoul C. M. Hennekam

    Vydáno 2017
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  12. 12
    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology Autor Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Van Goethem, Magali Taulan‐Cadars, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaëlle Corbillé, Mireille Cossée, Raúl Juntas Morales, Sylvie Tuffery‐Giraud, M. Kœnig, Bertrand Isidor, Marie-Claire Vincent

    Vydáno 2022
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  13. 13
    Penetrance, variable expressivity and monogenic neurodevelopmental disorders

    Penetrance, variable expressivity and monogenic neurodevelopmental disorders Autor Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg, François Lecoquierre, Gaël Nicolas, Marie Bournez, Antonio Vitobello, Frédéric Tran Mau‐Them, Gwenaël Le Guyader, Frédéric Bilan, Peter Bauer, Christiane Zweier, Juliette Piard, Laurent Pasquier, Stéphane Bézieau, Bénédicte Gérard, Laurence Faivre, Pascale Saugier‐Veber, Amélie Piton, Bertrand Isidor

    Vydáno 2024
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  14. 14
    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Autor Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sung‐Hae Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian D. Krantz, Sarah E. Noon, Jean P. Pfotenhauer, Thomas M. Morgan, Rocio Moran, Robert C. Pedersen, Margarita Sáenz, Christian P. Schaaf, Patrick Ryan Potts

    Vydáno 2015
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  15. 15
    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome

    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome Autor Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Pïcard, Anne Durandy, Angus Dobbie, Delphine Héron, Bertrand Isidor, Jacques Motté, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, G��raldine Viot, Francis Jaubert, Arnold Münnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel

    Vydáno 2009
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  16. 16
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

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

    Vydáno 2023
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  17. 17
    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>

    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i> Autor Christina Halgren, Søren K. Kjærgaard, Mads Bak, Christine Søholm Hansen, Zahra El-Schich, CM Anderson, KF Henriksen, Helle Hjalgrim, Maria Kirchhoff, EK Bijlsma, Maartje Nielsen, NS den Hollander, CAL Ruivenkamp, Bertrand Isidor, Cédric Le Caignec, Raffaella Zannolli, Mafalda Mucciolo, Alessandra Renieri, Francesca Mari, BM Anderlid, J Andrieux, Anne Dieux, Niels Tommerup, Iben Bache

    Vydáno 2011
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  18. 18
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients Autor David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Vydáno 2017
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  19. 19
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations Autor 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 J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Vydáno 2019
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  20. 20
    Chromosomal instability by mutations in the novel minor spliceosome component <i>CENATAC</i>

    Chromosomal instability by mutations in the novel minor spliceosome component <i>CENATAC</i> Autor Bas de Wolf, Ali Oghabian, Maureen V. Akinyi, Sandra Hanks, Eelco C. Tromer, Jolien J. E. van Hooff, Lisa van Voorthuijsen, Laura E. van Rooijen, Jens Verbeeren, Esther C. H. Uijttewaal, Marijke Baltissen, Shawn Yost, Philippe Piloquet, Michiel Vermeulen, ‎Berend Snel, Bertrand Isidor, Nazneen Rahman, Mikko J. Frilander, Geert J.P.L. Kops

    Vydáno 2021
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