Результати пошуку - Sandra Mercier

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  1. 1
    Analysis of genotype–phenotype correlations in human holoprosencephaly

    Analysis of genotype–phenotype correlations in human holoprosencephaly за авторством Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda‐Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Véronique David, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Опубліковано 2010
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  2. 2
    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy

    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy за авторством Julia Guillou, Alice de Pellegars, Florence Porcheret, Véronique Frémeaux‐Bacchi, Emma Allain‐Launay, Camille Debord, M. Denis, Yann Péréon, Christine Barnérias, Isabelle Desguerre, G. Roussey, Sandra Mercier

    Опубліковано 2022
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  3. 3
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases за авторством Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    Опубліковано 2011
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  4. 4
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis за авторством Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    Опубліковано 2012
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  5. 5
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age за авторством Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

    Опубліковано 2013
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  6. 6
    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 за авторством 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

    Опубліковано 2017
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  7. 7
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly за авторством Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    Опубліковано 2009
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  8. 8
    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis за авторством Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou‐Hanna, Nathalie Bodak, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Dominique Figarella‐Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Münnich, Jean‐Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort‐Campana, Mauro Santibanez‐Koref, Christel Thauvin, S. Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

    Опубліковано 2013
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  9. 9
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability за авторством Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    Опубліковано 2016
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  10. 10
    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals за авторством B. D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lore Wehner, Ute Hehr, Swarna Bale, A. Paulussen, Hubert J.M. Smeets, Emily Hardisty, Anna Tylki‐Szymańska, Ewa Pronicka, Marcell Clemens, Elizabeth McPherson, Raoul C. M. Hennekam, Jin S. Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Can Schell-Apacik, Carol W. Booth, R. L. Thomas, Sue Kenwrick, Derek A. T. Cummings, Sophia M. Bous, Amelia A. Keaton, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Rui Long, Jorge I. Vélez, Daniel Pineda‐Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Опубліковано 2009
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  11. 11
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases за авторством Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray‐Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard A. Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

    Опубліковано 2017
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  12. 12
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder за авторством Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Опубліковано 2017
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  13. 13
    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy

    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy за авторством Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, A. Nascimento, Lorenzo Maggi, Anna Sárközy, Soledad Monges, Marta Bértoli, Hirofumi Komaki, M. Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini‐Bettolo, Adele D’Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel‐Giannetti, Akihiko Ishiyama, Karin Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M. Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez‐Andrés, A. Reghan Foley, Susana Quijano‐Roy, Carsten G. Bönnemann, Gisèle Bonne

    Опубліковано 2021
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  14. 14
    Role of CAMK2D in neurodevelopment and associated conditions

    Role of CAMK2D in neurodevelopment and associated conditions за авторством Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin‐To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas A. Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, F. Ellis McKenzie, Elizabeth Bhoj, Caleb Bupp, Stéphane Bézieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung‐Chien Hsieh, Peter Krawitz, Miriam Elbracht, Danielle Veenma, Howard Schulman, Margaret M. Stratton, Sébastien Küry, Geeske M. van Woerden

    Опубліковано 2024
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  15. 15
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures за авторством Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Опубліковано 2016
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  16. 16
    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 за авторством 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

    Опубліковано 2017
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  17. 17
    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 за авторством 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

    Опубліковано 2015
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  18. 18
    New insights into genotype–phenotype correlation for GLI3 mutations

    New insights into genotype–phenotype correlation for GLI3 mutations за авторством 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

    Опубліковано 2014
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  19. 19
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> за авторством Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    Опубліковано 2012
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  20. 20
    Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

    Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations за авторством Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau

    Опубліковано 2015
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