Výsledky vyhledávání - Julie Désir

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  1. 1
    Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

    Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) Autor Julie Désir, Marc Abramowicz

    Vydáno 2008
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    Revisão
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  2. 2
    Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation

    Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation Autor Nicolas Lefèvre, Francis Corazza, Jean Duchateau, Julie Désir, Georges Casimir

    Vydáno 2012
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    Artigo
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  3. 3
    Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally

    Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally Autor Julie Désir, Marie Cassart, Philippe David, Patrick Van Bogaert, Marc Abramowicz

    Vydáno 2008
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    Artigo
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  4. 4
    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma Autor Julie Désir, Yves Sznajer, Fanny Depasse, Françoise Roulez, Marc Schrooyen, Françoise Meire, Marc Abramowicz

    Vydáno 2010
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    Artigo
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  5. 5
    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy Autor Julie Désir, Graciela Moya, Orit Reish, Nicole Van Regemorter, H. Deconinck, Karen L. David, Françoise Meire, Marc Abramowicz

    Vydáno 2007
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    Artigo
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  6. 6
    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy Autor Patrick Van Bogaert, Régis Azizieh, Julie Désir, Alec Aeby, Linda De Meırleır, Jean‐François Laes, Florence Christiaens, Marc Abramowicz

    Vydáno 2007
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    Artigo
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  7. 7
    Kinetochore KMN network gene CASC5 mutated in primary microcephaly

    Kinetochore KMN network gene CASC5 mutated in primary microcephaly Autor Anna Genin, Julie Désir, Nelle Lambert, Martine Biervliet, Nathalie Van der Aa, Geneviève Pierquin, Audrey Killian, M. Tosi, María Teresa Urbina, Anne Lefort, Frédérick Libert, Isabelle Pirson, Marc Abramowicz

    Vydáno 2012
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    Artigo
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  8. 8
    Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients

    Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients Autor Matteo Lambertini, Oranite Goldrat, Arlindo R. Ferreira, Julie Dechène, Hatem A. Azim, Julie Désir, Anne Delbaere, Marie Daphne t’Kint de Roodenbeke, Evandro de Azambuja, Michail Ignatiadis, Isabelle Demeestere

    Vydáno 2017
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  9. 9
    tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

    tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans Autor Mariana Igoillo‐Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anaïs Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L. Eizirik, Wim Wuyts, Cécile Julier, Ali Chakera, Sian Ellard, Andrew T. Hattersley, Marc Abramowicz, Miriam Cnop

    Vydáno 2013
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    Artigo
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  10. 10
    WDR62 is associated with the spindle pole and is mutated in human microcephaly

    WDR62 is associated with the spindle pole and is mutated in human microcephaly Autor Adeline K. Nicholas, Maryam Khurshid, Julie Désir, Ofélia P. Carvalho, James J. Cox, Gemma Thornton, Rizwana Kausar, Muhammad Ansar, Wasim Ahmad, Alain Verloès, Sandrine Passemard, Jean-Paul Misson, Susan Lindsay, Fanni Gergely, William B. Dobyns, Emma Roberts, Marc Abramowicz, C. Geoffrey Woods

    Vydáno 2010
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  11. 11
    RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

    RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes Autor Ludovic Jeanson, Bruno Copin, Jean‐François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, A. Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, S. Tissier, Bruno Louis, Aline Tamalet, J. de Blic, Annick Clément, Estelle Escudier, Serge Amselem, Marie Legendre

    Vydáno 2015
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  12. 12
    Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

    Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome Autor Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen Stals, Emma L. Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe Meisner Lyngby, Miriam G. Pedersen, Julie Désir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

    Vydáno 2022
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  13. 13
    Rfx6 directs islet formation and insulin production in mice and humans

    Rfx6 directs islet formation and insulin production in mice and humans Autor Stuart B. Smith, Hui‐Qi Qu, Nadine Taleb, Nina Kishimoto, David Scheel, Yang Lü, Ann‐Marie Patch, R. Grabs, Juehu Wang, Francis C. Lynn, Takeshi Miyatsuka, John J. Mitchell, Rina Seerke, Julie Désir, Serge Vanden Eijnden, Marc Abramowicz, N. Kacet, Jacques Weill, Marie-Ève Renard, Mattia Gentile, Inger Marie Jensen Hansen, Ken Dewar, Andrew T. Hattersley, Rennian Wang, Maria E. Wilson, Jeffrey D. Johnson, Constantin Polychronakos, Michael S. German

    Vydáno 2010
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  14. 14
    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis Autor Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tüysüz, Bassam Abu‐Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al‐Gazali, Sarenur Yilmaz Basaran, Jill Clayton‐Smith, Julie Désir, Harinder Gill, Marie T. Greally, Erkan Koparir, Merel C. van Maarle, Sara MacKay, Geert Mortier, Jenny Morton, David Sillence, Catheline Vilain, Ian Young, Klaus Zerres, Martine Le Merrer, Arnold Münnich, Carine Le Goff, Antonio Rossi, Valérie Cormier‐Daire

    Vydáno 2012
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  15. 15
    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

    Outcome of publicly funded nationwide first-tier noninvasive prenatal screening Autor Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2021
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  16. 16
    Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

    Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome Autor Lina Basel‐Vanagaite, Bruno Dallapiccola, Ramiro Ramírez‐Solis, Alexandra Segref, Hölger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria Lisa Dentici, Francesca Romana Lepri, Kay Hofmann, Adi Har‐Zahav, Edward J. Ryder, Natasha A. Karp, Jeanne Estabel, Anna-Karin Gerdin, Christine Podrini, Neil J. Ingham, Janine Altmüller, Gudrun Nürnberg, Peter Frommolt, Sonia Abdelhak, Metsada Pasmanik‐Chor, Osnat Konen, Richard I. Kelley, Mordechai Shohat, Peter Nürnberg, Jonathan Flint, Karen P. Steel, Thorsten Hoppe, Christian Kubisch, David J. Adams, Guntram Borck

    Vydáno 2012
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  17. 17
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update Autor Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Vydáno 2017
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  18. 18
    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> Autor Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark E. Lindsay, David Liang, Sarju Mehta, Jennifer Hague, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Yvonne Detisch, Mieke M. van Haelst, Annette F. Baas, Klaske D. Lichtenbelt, Kees P. J. Braun, Denise van der Linde, Jolien W. Roos‐Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Rode Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst‐Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L. Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys

    Vydáno 2018
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  19. 19
    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Autor Nicole Revençu, Laurence M. Boon, Antonella Mendola, Maria Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulàlia Baselga, A. Dompmartin, Samira Syed, A. Martín‐Santiago, Lesley C. Adès, Felicity Collins, Janine Smith, Sarah A. Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti‐Pierri, Asunción Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol Gardiner, Yim Dwight, David Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah L. Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, María del Carmen Boente, C. Léauté‐Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, J. Mazereeuw‐Hautier, Brid O’Donnell, D. Bessis, Reed E. Pyeritz, Aïcha Salhi, Oon Tian Tan, Orli Wargon, John B. Mulliken, Miikka Vikkula

    Vydáno 2013
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  20. 20
    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Autor Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Babak Oskouian, Srinivas Honnappa, Won‐Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A. Braun, Carolin E. Sadowski, Eugen Widmeier, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H. Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Mónica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, François Bernier, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Julian Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuß, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S. Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Núria Lloberas, A. Madrid, Vikas R. Dharnidharka, Anne M. Connolly, Marcia Willing, Megan A. Cooper, Richard P. Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D. Saba, Friedhelm Hildebrandt

    Vydáno 2017
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