Risultati della ricerca - Marie Vincent

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  1. 1
    Investigating the utility of human melanoma cell lines as tumour models

    Investigating the utility of human melanoma cell lines as tumour models di Marie Vincent, Krista, Postovit, Lynne-Marie

    Pubblicazione 2017
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  2. 2
    Incidence, Prevalence, Costs, and Impact on Disability of Common Conditions Requiring Rehabilitation in the United States: Stroke, Spinal Cord Injury, Traumatic Brain Injury, Multiple Sclerosis, Osteoarthritis, Rheumatoid Arthritis, Limb Loss, and Back Pain

    Incidence, Prevalence, Costs, and Impact on Disability of Common Conditions Requiring Rehabilitation in the United States: Stroke, Spinal Cord Injury, Traumatic Brain Injury, Multi... di Yves-Marie Vincent, Leighton Chan, Kadir J. Carruthers

    Pubblicazione 2014
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  3. 3
    Development of multifunctional lipid nanocapsules for the co-delivery of paclitaxel and CpG-ODN in the treatment of glioblastoma.

    Development of multifunctional lipid nanocapsules for the co-delivery of paclitaxel and CpG-ODN in the treatment of glioblastoma. di Giovanna Lollo, Marie Vincent, Gabriela Ullio-Gamboa, Laurent Lemaire, Florence Franconi, Dominique Couez, Jean‐Pierre Benoît

    Pubblicazione 2015
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  4. 4
    Key Signatures of Magnetofossils Elucidated by Mutant Magnetotactic Bacteria and Micromagnetic Calculations

    Key Signatures of Magnetofossils Elucidated by Mutant Magnetotactic Bacteria and Micromagnetic Calculations di Matthieu Amor, Juan Wan, Ramón Egli, Julie Carlut, Christophe Gatel, Ingrid Marie Vincent Andersen, E. Snoeck, Arash Komeili

    Pubblicazione 2021
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  5. 5
    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders di Marie Vincent, Justyna A. Karolak, Gail Deutsch, Tomasz Gambin, Edwina J. Popek, Bertrand Isidor, Przemysław Szafrański, Cédric Le Caignec, Paweł Stankiewicz

    Pubblicazione 2019
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  6. 6
    Tumor targeting of the IL‐15 superagonist RLI by an anti‐GD2 antibody strongly enhances its antitumor potency

    Tumor targeting of the IL‐15 superagonist RLI by an anti‐GD2 antibody strongly enhances its antitumor potency di Marie Vincent, Anne Bessard, Denis Cochonneau, Géraldine Teppaz, Véronique Solé-Jamault, Mike Maillasson, Stéphane Birklé, Laure Garrigue‐Antar, Agnès Quéméner, Yannick Jacques

    Pubblicazione 2013
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  7. 7
    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant di Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet

    Pubblicazione 2018
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  8. 8
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome di Élise Schaefer, Corinne Collet, David Geneviève, Marie Vincent, Dietmar Lohmann, Elodie Sanchez, Chantal Bolender, Marie‐Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel Van Maldergem, Bérénice Doray

    Pubblicazione 2014
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  9. 9
    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes di Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann‐Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

    Pubblicazione 2019
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  10. 10
    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib di G Morin, C. Degrugillier-Chopinet, Marie Vincent, Antoine Fraissenon, H. Aubert, Célia Chapelle, Clément Hoguin, François Dubos, B. Catteau, Florence Petit, Aurélie Mezel, Olivia Domanski, Guillaume Herbreteau, Marie Alesandrini, Nathalie Boddaert, Nathalie Boutry, Christine Broissand, Tianxiang Han, Fabrice Branle, Sabine Sarnacki, Thomas Blanc, Laurent Guibaud, Guillaume Canaud

    Pubblicazione 2022
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  11. 11
    Critical Role of Tissue Kallikrein in Vessel Formation and Maturation

    Critical Role of Tissue Kallikrein in Vessel Formation and Maturation di Oliver A. Stone, Christine Richer, Costanza Emanueli, Vincent van Weel, Paul H.A. Quax, Rajesh Katare, N Kraenkel, Paola Campagnolo, Lucíola S. Barcelos, Mauro Siragusa, Graciela B. Sala‐Newby, Danila Baldessari, Marina Mione, Marie Vincent, Andrew V. Benest, Ayman Al Haj Zen, Julien Gonzalez, David O. Bates, François Alhenc‐Gelas, Paolo Madeddu

    Pubblicazione 2009
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  12. 12
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients di David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Pubblicazione 2017
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  13. 13
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive di Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    Pubblicazione 2016
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  14. 14
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes di Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Pubblicazione 2018
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  15. 15
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 di Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

    Pubblicazione 2019
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  16. 16
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability di Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    Pubblicazione 2016
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  17. 17
    Delineating <i>FOXG1</i> syndrome

    Delineating <i>FOXG1</i> syndrome di Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev, Magalie Barth, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Héron, Mathieu Milh, S. Rondeau, Caroline Michot, Stéphanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leïla Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Bénédicte Pontier, Baptiste Troude, François Rivier, Christophe Philippe, Thierry Bienvenu, Marie‐Aude Spitz, Amandine Béry, Nadia Bahi‐Buisson

    Pubblicazione 2018
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  18. 18
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... di Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    Pubblicazione 2019
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  19. 19
    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders di Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo A. Wai, Alexander J.M. Dingemans, Jayne Y. Hehir‐Kwa, Marjorlaine Willems, Yline Capri, Sarju Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter D. Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Bürglen, Marion Gérard, Audrey Putoux, Vincent Cantagrel, Karine Siquier-Pernet, Marlène Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau‐Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

    Pubblicazione 2020
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  20. 20
    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation di Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron

    Pubblicazione 2020
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