Результаты поиска - Sylvie Manouvrier

Отмена результатов
  1. 1
    Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

    Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility по Michel Crépin, Marie‐Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier, Michèle Mathieu, Marie‐Pierre Buisine

    Опубликовано 2011
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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 по Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    Опубликовано 2015
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    Artigo
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  3. 3
    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants по Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier‐Hanu, Florence Petit

    Опубликовано 2018
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    Artigo
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  4. 4
    Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

    Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene по Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul C. M. Hennekam, Andrea Superti‐Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala‐Kokko

    Опубликовано 2000
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    Artigo
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  5. 5
    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia по Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas

    Опубликовано 2009
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    Artigo
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  6. 6
    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 по Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu

    Опубликовано 2017
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    Artigo
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  7. 7
    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans по Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel

    Опубликовано 2011
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    Artigo
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  8. 8
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... по Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    Опубликовано 2009
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    Artigo
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  9. 9
    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... по Horacio Astudillo‐de la Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs

    Опубликовано 2009
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  10. 10
    Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

    Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor по Bart Loeys, Ulrike Schwarze, Tammy M. Holm, Bert Callewaert, George H. Thomas, Hariyadarshi Pannu, Julie De Backer, Gretchen Oswald, Sofie Symoens, Sylvie Manouvrier, Amy E. Roberts, Francesca Faravelli, M. Alba Greco, Reed E. Pyeritz, Dianna M. Milewicz, Paul Coucke, Duke E. Cameron, Alan C. Braverman, Peter H. Byers, Anne M. De Paepe, Harry C. Dietz

    Опубликовано 2006
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  11. 11
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) по Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    Опубликовано 2007
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  12. 12
    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

    Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations по Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gérard, Juliane Léger, Valérie Drouin‐Garraud, Hervé Lefèbvre, Michel Polak, Jean‐Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolás de Roux, Nelly Pitteloud

    Опубликовано 2014
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  13. 13
    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

    Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer по Thierry Frébourg, Carla Oliveíra, Patrick Hochain, Rachid Karam, Sylvie Manouvrier, Carla Graziadio, Michel Vekemans, A Hartmann, Stéphanie Baert‐Desurmont, C Alexandre, S Lejeune Dumoulin, Cláudio Augusto Marroni, Cosette Martin, Sérgio Castedo, Michael Lovett, Janet S. Winston, José Carlos Machado, Tania Attié‐Bitach, Ethylin Wang Jabs, Juanliang Cai, P. Pellerin, J.-P. Triboulet, Michel Scotté, Florence Le Pessot, A Hedouin, Fátima Carneiro, Martine Blayau, Raquel Seruca

    Опубликовано 2005
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  14. 14
    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity по Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Başaran, Flemming Skovby, Raoul C. M. Hennekam, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, Ethylin Wang Jabs

    Опубликовано 2008
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  15. 15
    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants по Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman, Catherine S. Novak, Ingrid Plajzer-Frick, Momoe Kato, Tyler H. Garvin, Quan Pham, Anne Harrington, Riana D. Hunter, Janeth Godoy, Eman M. Meky, Jennifer A. Akiyama, Veena Afzal, Stella Tran, Fabienne Escande, Brigitte Gilbert‐Dussardier, Nolwenn Jean‐Marçais, Sanjarbek Hudaiberdiev, Ivan Ovcharenko, Matthew B. Dobbs, Christina A. Gurnett, Sylvie Manouvrier‐Hanu, Florence Petit, Axel Visel, Diane E. Dickel, L Pennacchio

    Опубликовано 2020
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  16. 16
    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients по Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel

    Опубликовано 2014
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  17. 17
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients по Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco, Dian Donnai, Raoul C. M. Hennekam, Delphine Héron, Sébastien Jacquemont, Pekka Kannus, Angela E. Lin, Sylvie Manouvrier‐Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas‐Rothschild, Marlène Rio, Marleen Simon, Irene Stolte‐Dijkstra, James R. Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloès, Arnold Münnich, Valérie Cormier‐Daire

    Опубликовано 2014
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  18. 18
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects по Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro NISHIO, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony T. Moore, David Fitzpatrick, Johannes R. Lemke, Florence Fellmann, François‐Guillaume Debray, Florence Dastot-Le-Moal, Marion Gérard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloès, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael J. Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, Graeme Black

    Опубликовано 2009
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  19. 19
    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management по Mayra Mejía, David A. Dyment, Jørn V. Sagen, Judith St‐Onge, Ute Moog, Brian Hon‐Yin Chung, Sophy Mo, Sahar Mansour, A. Albanese, S. Garcia, David Martin, Ainhoa Abad López, Tor Claudi, Rainer König, S.M. White, S.L. Sawyer, J.A. Bernstein, Lauren Slattery, Rebekah Jobling, G. Yoon, Cynthia J. Curry, M. Le Merrer, Bernard Le Luyer, D. Héron, M. Mathieu‐Dramard, Pierre Bitoun, S. Odent, Jeanne Amiel, Paul Kuentz, J. Thevenon, Marie-Alice Laville, Yves Reznik, C. Fagour, M.L. Nunès, D. Delesalle, Sylvie Manouvrier, Olivier Lascols, Frédéric Huet, Christine Binquet, Laurence Faivre, J Rivière, Corinne Vigouroux, Pål R. Njølstad, A. Micheil Innes, Christel Thauvin-Robinet

    Опубликовано 2015
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  20. 20
    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 по 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

    Опубликовано 2015
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