Výsledky vyhledávání - Judith St.-Onge

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  1. 1
    MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

    MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels Autor Lan Xiong, Hélène Catoire, Patrick A. Dion, Cláudia Gaspar, Ronald G. Lafrenière, Simon Girard, Аnastasia Levchenko, Jean‐Baptiste Rivière, Laura M. Fiori, Judith St‐Onge, Isabelle Bachand, Pascale Thibodeau, Richard P. Allen, Christopher J. Earley, Gustavo Turecki, Jacques Montplaisir, Guy A. Rouleau

    Vydáno 2009
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  2. 2
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Autor Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns

    Vydáno 2015
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  3. 3
    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function Autor Anna Fassio, Lysanne Patry, Sonia Congia, Franco Onofri, Amélie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranchi, Manuela Fadda, Anna Corradi, Pietro Baldelli, Line Lapointe, Judith St‐Onge, Caroline Meloche, Laurent Mottron, Flavia Valtorta, Dang Khoa Nguyen, Guy A. Rouleau, Fabio Benfenati, Patrick Cossette

    Vydáno 2011
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  4. 4
    Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals

    Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals Autor Meagan Collins, Judith St‐Onge, Sabrina Schlienger, Nassima Boudrahem‐Addour, Lina Mougharbel, J. Michaud, Clara Frances Lloyd, Elena Bruneau, Cedric Roux, Ahmed N. Sahly, Bradley Osterman, Kenneth A. Myers, Guy A. Rouleau, Daniel Alexander Jimenez Cruz, Jean‐Baptiste Rivière, Andrea Accogli, Frédéric Charron, Myriam Srour

    Vydáno 2024
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  5. 5
    Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

    Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis Autor Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière, Ryan F.L. O’Shaughnessy, Lara Al-Olabi, Judith St.-Onge, David J. Atherton, H. Aubert, Lorea Bagazgoitia, S. Barbarot, E. Bourrat, C. Chiavérini, W.K. Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, S. Hadj‐Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, J.‐P. Lacour, Regula Waelchli, Marion Wobser, P. Vabres, E. Elizabeth Patton, Veronica A. Kinsler

    Vydáno 2016
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  6. 6
    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 Autor 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

    Vydáno 2017
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  7. 7
    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy Autor Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St‐Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu‐Dramard, Pierre Bitoun, Jean‐Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thévenon, Patrick Callier, Martine Laville, Yves Reznik, C. Fagour, Marie‐Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Bonhomme‐Faivre, Corinne Vigouroux, Jean-Baptiste Rivière

    Vydáno 2013
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  8. 8
    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation Autor Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, Vicente Herranz‐Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St‐Onge, Ange‐Line Bruel, Julien Thévenon, Susana González-Granero, Caroline Alby, Arnold Münnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean‐Baptiste Rivière, Tania Attié‐Bitach, José Manuel García‐Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury

    Vydáno 2014
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  9. 9
    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 Autor 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

    Vydáno 2014
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  10. 10
    Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

    Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome Autor P. Vabres, Arthur Sorlin, Stanislav S. Kholmanskikh, Bénédicte Demeer, Judith St‐Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, D. Bessis, Odile Boute, Alain M. Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry‐Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thévenon, William B. Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A. Kinsler, Christel Thauvin, Laurence Faivre, M. Elizabeth Ross, Jean‐Baptiste Rivière

    Vydáno 2019
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  11. 11
    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 Autor Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael Stadler, Marietta Zinner, Daniel Olivieri, P. Vabres, Laurence Duplomb, Eveline S.J.M. de Bont, Yannis Duffourd, Floor A.M. Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D. Lichtenbelt, Christel Thauvin‐Robinet, Judith St‐Onge, Julien Thévenon, Koen L.I. van Gassen, Mieke M. van Haelst, Silvana van Koningsbruggen, Daniel Heß, Sébastien A. Smallwood, Jean‐Baptiste Rivière, Laurence Faivre, Joerg Betschinger

    Vydáno 2018
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  12. 12
    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 Autor 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

    Vydáno 2015
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  13. 13
    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Autor Ghayda Mirzaa, David Parry, Andrew E. Fry, Kristin A. Giamanco, Jeremy Schwartzentruber, Megan R. Vanstone, Clare V. Logan, Nicola Roberts, Colin A. Johnson, Shawn Singh, Stanislav S. Kholmanskikh, Carissa Adams, Rebecca D. Hodge, Robert F. Hevner, David T. Bonthron, Kees P. J. Braun, Laurence Faivre, Jean‐Baptiste Rivière, Judith St‐Onge, Karen W. Gripp, Grazia M.S. Mancini, Ki Pang, Elizabeth Sweeney, Hilde Van Esch, Nienke E. Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M. Boycott, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn Sheridan

    Vydáno 2014
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  14. 14
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Autor Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Vydáno 2012
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  15. 15
    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 Autor 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

    Vydáno 2015
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  16. 16
    De novo mutations in the gene encoding the synaptic scaffolding protein<i>SHANK3</i>in patients ascertained for schizophrenia

    De novo mutations in the gene encoding the synaptic scaffolding protein<i>SHANK3</i>in patients ascertained for schizophrenia Autor Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière, Lan Xiong, Dan Spiegelman, Edna Brustein, Mathieu Lapointe, Huashan Peng, Mélanie Côté, Anne Noreau, Fadi F. Hamdan, Anjené Addington, Judith L. Rapoport, Lynn E. DeLisi, Marie‐Odile Krebs, Ridha Joober, Ferid Fathalli, Fayçal Mouaffak, A. Pejmun Haghighi, Christian Néri, Marie‐Pierre Dubé, Mark Samuels, Claude Marineau, Eric A. Stone, Philip Awadalla, Philip Barker, Salvatore Carbonetto, Pierre Drapeau, Guy A. Rouleau, Kathleen Daignault, Ousmane Diallo, Joannie Duguay, Marina Drits, Édouard Henrion, Philippe Jolivet, Frédéric Kuku, Karine Lachapelle, Guy Laliberté, Sandra B. Laurent, Meijiang Liao, Carlos Marino, Amélie Piton, A Raymond, Annie Reynolds, Daniel Rochefort, Judith St‐Onge, Pascale Thibodeau, Kazuya Tsurudome, Yanlian Yang, Sophie Leroy, Katia Ossian, Mélanie Chayet, David Gourion

    Vydáno 2010
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  17. 17
    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 Autor 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

    Vydáno 2017
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  18. 18
    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing Autor Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Jean‐Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, C. Abasq‐Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attié‐Bitach, Nadia Bahi‐Buisson, S. Barbarot, Geneviève Baujat, D. Bessis, O. Boccara, Maryse Bonnière, Odile Boute, A.‐C. Bursztejn, C. Chiavérini, Valérie Cormier‐Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie‐Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jéléna Martinovic, A. Maruani, Michèle Mathieu‐Dramard, J. Mazereeuw‐Hautier, Caroline Michot, Cyril Mignot, J. Miquel, Fanny Morice‐Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloès, Marie Vincent, Catherine Vincent‐Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thévenon, Christel Thauvin‐Robinet, S. Hadj‐Rabia, Laurence Faivre, P. Vabres, Jean-Baptiste Rivière

    Vydáno 2017
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  19. 19
    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects Autor Andrea Accogli, Sara Calabretta, Judith St‐Onge, Nassima Boudrahem‐Addour, Alexandre Dionne‐Laporte, Pascal Joset, Silvia Azzarello‐Burri, Anita Rauch, Joel B. Krier, Elizabeth L. Fieg, J. Carl Pallais, Allyn McConkie‐Rosell, Marie McDonald, Sharon F. Freedman, Jean‐Baptiste Rivière, Joël Lafond‐Lapalme, Brittany Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van‐Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour, Maria T. Acosta, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves

    Vydáno 2019
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