Resultats de la cerca - Audrey Labalme

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  1. 1
    New disease gene location and high genetic heterogeneity in idiopathic scoliosis

    New disease gene location and high genetic heterogeneity in idiopathic scoliosis per Patrick Edery, Patricia Margaritte‐Jeannin, Bernard Biot, Audrey Labalme, Jean‐Claude Bernard, Joëlle Chastang, Behrouz Kassaï, Marie-Helene Plais, Florina Moldovan, Françoise Clerget‐Darpoux

    Publicat 2011
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  2. 2
    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 per 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

    Publicat 2022
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  3. 3
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism per Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Publicat 2012
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  4. 4
    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome per Miriam Essid, Sana Karoui, M. Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, S. Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaëtan Lesca, Nicolas Chatron

    Publicat 2025
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  5. 5
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> per Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Publicat 2013
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  6. 6
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases per Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    Publicat 2009
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  7. 7
    Functional variants of POC5 identified in patients with idiopathic scoliosis

    Functional variants of POC5 identified in patients with idiopathic scoliosis per Scott B. Patten, Patricia Margaritte‐Jeannin, Jean‐Claude Bernard, Eudéline Alix, Audrey Labalme, Alicia Besson, Simon Girard, Khaled Fendri, Nicolas Fraisse, Bernard Biot, C. Poizat, Amandine Campan-Fournier, Kariman Abelin-Genevois, V. Cunin, Charlotte Zaouter, Meijiang Liao, Raphaelle Lamy, Gaëtan Lesca, Rita Menassa, Charles Marcaillou, Mélanie Letexier, Damien Sanlaville, J. Bérard, Guy A. Rouleau, Françoise Clerget‐Darpoux, Pierre Drapeau, Florina Moldovan, Patrick Edery

    Publicat 2015
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  8. 8
    A genome-wide DNA methylation signature for SETD1B-related syndrome

    A genome-wide DNA methylation signature for SETD1B-related syndrome per I. Krzyzewska, Saskia M. Maas, Peter Henneman, K. Lip, A. Venema, Kristin Barañano, Anna Chassevent, Erfan Aref‐Eshghi, Anthonie J. van Essen, Tokiko Fukuda, Hiroko Ikeda, M. Jacquemont, H.-G. Kim, Audrey Labalme, M. E. Suzanne Lewis, Gaëtan Lesca, Irene Madrigal, Sonal Mahida, Naomichi Matsumoto, Raquel Rabionet, Evica Rajcan‐Separovic, Ying Qiao, Bekim Sadiković, Hirotomo Saitsu, David A. Sweetser, Mariëlle Alders, Marcel M.A.M. Mannens

    Publicat 2019
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  9. 9
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature per Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Publicat 2013
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  10. 10
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy per Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joël Fluss, Julitta de Bellescize, Julia Scholly, Rikke S. Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti‐Hirsch, Caroline Schluth–Bolard, Frédérique Sloan‐Béna, Katherine L. Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E. Scheffer, Sha Tang, Candace T. Myers, Hannah Stamberger, Gemma L. Carvill, Deepali N. Shinde, Heather C. Mefford, Elena Neagu, Robert Huether, Hsiao‐Mei Lu, Alice Dica, Julie S. Cohen, Catrinel Iliescu, Cristina Pomeran, James L. Rubenstein, Ingo Helbig, Damien Sanlaville, Édouard Hirsch, Pierre Szepetowski

    Publicat 2016
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  11. 11
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy per Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    Publicat 2020
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  12. 12
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior per Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    Publicat 2021
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  13. 13
    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 per Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann

    Publicat 2010
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  14. 14
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 per Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Publicat 2020
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