Risultati della ricerca - Catheline Vilain

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  1. 1
    Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults

    Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults di Guy Decaux, Frédéric Vandergheynst, Yasmina Bouko, Jasmine Parma, Gilbert Vassart, Catheline Vilain

    Pubblicazione 2007
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  2. 2
    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke di Lydia Murray, Yinhui Lu, Aislynn Taggart, Nicole Van Regemorter, Catheline Vilain, Marc Abramowicz, Karl E. Kadler, Tom Van Agtmael

    Pubblicazione 2013
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  3. 3
    Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8<sup>1</sup>

    Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8<sup>1</sup> di Catheline Vilain, Catherine Rydlewski, Laurence Duprez, Claudine Heinrichs, Marc Abramowicz, P Malvaux, B. Renneboog, Jasmine Parma, Sabine Costagliola, Gilbert Vassart

    Pubblicazione 2001
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  4. 4
    Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

    Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid di Laurent Meeus, Brigitte Gilbert, Catherine Rydlewski, Jasmine Parma, Anne Lienhardt Roussie, Marc Abramowicz, Catheline Vilain, Daniel Christophe, Sabine Costagliola, Gilbert Vassart

    Pubblicazione 2004
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  5. 5
    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly di Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C. de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

    Pubblicazione 2013
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  6. 6
    Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

    Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations di Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, A. Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, L. Pasquesoone, Catheline Vilain, Laurence M. Boon, Miikka Vikkula

    Pubblicazione 2021
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  7. 7
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients di Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Pubblicazione 2021
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  8. 8
    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 di 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

    Pubblicazione 2012
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  9. 9
    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 di 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

    Pubblicazione 2015
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  10. 10
    <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 di 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

    Pubblicazione 2013
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  11. 11
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling di Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik

    Pubblicazione 2013
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  12. 12
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study di Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Pubblicazione 2013
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  13. 13
    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 di Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., Hildebrandt, Friedhelm

    Pubblicazione 2017
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  14. 14
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients di Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Pubblicazione 2018
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  15. 15
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome di Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Pubblicazione 2018
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