检索结果 - Anne Dieux

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  1. 1
    Radiographic features of osteogenesis imperfecta

    Radiographic features of osteogenesis imperfecta 由 Armelle Renaud, Julie Aucourt, Jacques Weill, Julien Bigot, Anne Dieux, Louise Devisme, Antoine Moraux, Nathalie Boutry

    出版 2013
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  2. 2
    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity 由 Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    出版 2015
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  3. 3
    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans 由 M. Lebrun, Nicolas Richard, Geneviève Abéguilé, Anne David, Anne Dieux, Hubert Journel, Didier Lacombe, Graziella Pinto, Sylvie Odent, Juliette Salles, Alain Taı̈eb, S. Gandon-Laloum, Marie‐Laure Kottler

    出版 2010
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  4. 4
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations 由 Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    出版 2015
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  5. 5
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis 由 Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    出版 2016
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  6. 6
    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy 由 Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela

    出版 2022
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  7. 7
    Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis 由 Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith

    出版 2016
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  8. 8
    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype 由 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

    出版 2010
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  9. 9
    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> 由 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

    出版 2011
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  10. 10
    Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

    Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families 由 Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne‐Lise Delezoide, Anne Dieux‐Coëslier, B. Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, M. Le Bourgeois, Jéléna Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Münnich, Martine Le Merrer, Kim‐Hanh Le Quan Sang, Valérie Cormier‐Daire

    出版 2013
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  11. 11
    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing 由 A. Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet‐Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat, Françoise Debiais, Yline Capri, Martine Cohen‐Solal, P. Parent, Jean Chiésa, Anne Dieux, Florence Petit, J. Roume, Monica Isnard, Valérie Cormier‐Daire, Agnès Linglart, José Luís Millán, Jean‐Pierre Salles, Christine Muti, Brigitte Simon‐Bouy, Étienne Mornet

    出版 2015
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  12. 12
    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation 由 Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau‐Frachon, Isabelle Rouvet, Jean‐Luc Alessandri, Louise Devisme, Anne Dieux‐Coëslier, Marie‐Pierre Cordier, Yline Capri, Suonavy Khung‐Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie‐Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié‐Bitach, Marc Jeanpierre, Sophie Saunier

    出版 2016
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  13. 13
    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients 由 Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin–Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux‐Coëslier, Sylvie Manouvrier, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attié‐Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Élise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laëtitia Lambert, Bruno Leheup, Jéléna Martinovic, Sandra Mercier, Cyril Mignot, Marie‐Laure Moutard, M. Laguía Pérez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloès, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean Laplanche, Corinne Collet

    出版 2015
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  14. 14
    New insights into genotype–phenotype correlation for GLI3 mutations

    New insights into genotype–phenotype correlation for GLI3 mutations 由 Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach

    出版 2014
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  15. 15
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement 由 Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan

    出版 2015
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  16. 16
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes 由 Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thévenon, Laurence Jego, Estelle Lopez, Jean‐François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Bürglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert‐Dussardier, Bruno Reversade, Elisabeth Steichen‐Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie M.H.F. Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St‐Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier‐Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz‐Pérez, Jaclyn S. Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attié‐Bitach, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    出版 2017
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    Revisão
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  17. 17
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients 由 Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    出版 2010
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  18. 18
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype 由 Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    出版 2015
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  19. 19
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome 由 Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    出版 2020
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  20. 20
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 由 Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    出版 2023
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