Ohcanbohtosat - Alice Masurel

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  1. 1
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition Dahkki Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Almmustuhtton 2013
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  2. 2
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Dahkki Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

    Almmustuhtton 2012
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    Artigo
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  3. 3
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Dahkki Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Almmustuhtton 2014
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  4. 4
    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Dahkki Sophie Nambot, Julien Thévenon, Paul Kuentz, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Daphné Lehalle, Nolwenn Jean‐Marçais, Mathilde Lefebvre, P. Vabres, Salima El Chehadeh-Djebbar, Christophe Philippe, Frédéric Tran Mau‐Them, Judith St‐Onge, Thibaud Jouan, Martin Chevarin, Charlotte Pöe, Virginie Carmignac, Antonio Vitobello, Patrick Callier, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Almmustuhtton 2017
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  5. 5
    Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations

    Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations Dahkki Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud, Bert Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Élodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, Peter N. Robinson, Lesley C. Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Almmustuhtton 2008
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  6. 6
    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy Dahkki Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth E. Palmer, Michael Field, Jackie Boyle, David Chitayat, William D. Gaillard, Eric H. Kossoff, Marjolaine Willems, David Geneviève, Frédéric Tran Mau‐Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel‐Paulet, Amélie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky‐Silver, Tally Lerman‐Sagie

    Almmustuhtton 2016
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  7. 7
    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Dahkki Julien Thévenon, Mathieu Milh, François Feillet, Judith St‐Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency‐Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaëtan Lesca, Salima El Chehadeh, Christel Thauvin‐Robinet, Alice Masurel‐Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean‐Baptiste Rivière

    Almmustuhtton 2014
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  8. 8
    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency Dahkki Chloé Saunier, Svein I. Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Bruno Leheup, Laetitia Lampert, Cyril Mignot, Kamer Tezcan, Grazia M.S. Mancini, Caroline Nava, Melissa Wasserstein, Ange‐Line Bruel, Julien Thévenon, Alice Masurel, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Jean‐Baptiste Rivière, Marjon A. van Slegtenhorst, Laurence Faivre, Amélie Piton, André Reis, Thomas Arnesen, Christel Thauvin‐Robinet, Christiane Zweier

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
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  9. 9
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Dahkki Angélique Quartier, Hélène Poquet, Brigitte Gilbert‐Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thévenon, Anne‐Laure Mosca‐Boidron, Patrick Callier, Jean Muller, Gaëtan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoît Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean‐Louis Mandel, Laurence Faivre, Amélie Piton

    Almmustuhtton 2017
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
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  10. 10
    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability Dahkki Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  11. 11
    Delineating <i>FOXG1</i> syndrome

    Delineating <i>FOXG1</i> syndrome Dahkki Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev, Magalie Barth, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Héron, Mathieu Milh, S. Rondeau, Caroline Michot, Stéphanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leïla Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Bénédicte Pontier, Baptiste Troude, François Rivier, Christophe Philippe, Thierry Bienvenu, Marie‐Aude Spitz, Amandine Béry, Nadia Bahi‐Buisson

    Almmustuhtton 2018
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  12. 12
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy Dahkki Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    Almmustuhtton 2018
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  13. 13
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Dahkki Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    Almmustuhtton 2014
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  14. 14
    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Dahkki Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier

    Almmustuhtton 2017
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  15. 15
    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype Dahkki Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean‐Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Éric Bieth, Marie Pierre Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne‐Lise Delezoide, Delphine Dupin‐Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin–Coignard, Jéléna Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quēlin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier‐Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou

    Almmustuhtton 2015
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  16. 16
    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Dahkki Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow

    Almmustuhtton 2014
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  17. 17
    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Dahkki Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville

    Almmustuhtton 2019
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