Zoekresultaten - Serge Romana

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  1. 1
    The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion

    The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion door Serge Romana, M Mauchauffé, Maryvonne Le Coniat, Ilya Chumakov, Denis Le Paslier, Roland Berger, Olivier Bernard

    Gepubliceerd in 1995
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  2. 2
    High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia

    High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia door Serge Romana, Healegne Poirel, M Leconiat, MA Flexor, M Mauchauffé, Philippe Jonveaux, EA Macintyre, Roland Berger, Olivier Bernard

    Gepubliceerd in 1995
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  3. 3
    Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

    Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood door Giovanna Vona, Christophe Béroud, Alexandra Benachi, Alice Quenette, Jean‐Paul Bonnefont, Serge Romana, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Bréchot

    Gepubliceerd in 2002
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  4. 4
    Isolation by Size of Epithelial Tumor Cells

    Isolation by Size of Epithelial Tumor Cells door Giovanna Vona, Abdelmajid Sabile, Malek Louha, Véronique Sitruk, Serge Romana, Karin Schütze, Frédérique Capron, Dominique Franco, Mario Pazzagli, Michel Vekemans, Bernard Lacour, Christian Bréchot, Patrizia Paterlini-Bréchot

    Gepubliceerd in 2000
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  5. 5
    Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue

    Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue door Virginie Verkarre, Serge Romana, Christophe Cellier, Vahid Asnafi, Jean–Jacques Mention, Ullah Barbe, Sylvie Nusbaum, Olivier Hermine, Elizabeth Macintyre, Nicole Brousse, Nadine Cerf‐Bensussan, Isabelle Radford‐Weiss

    Gepubliceerd in 2003
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  6. 6
    Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

    Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis door Despina Moshous, Christophe Pannetier, Régina de Chasseval, Françoise Le Deist, Marina Cavazzana, Serge Romana, Elizabeth Macintyre, Danielle Canioni, Nicole Brousse, Alain Fischer, Jean‐Laurent Casanova, Jean‐Pierre de Villartay

    Gepubliceerd in 2003
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  7. 7
    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties door David Geneviève, Damien Sanlaville, Laurence Faivre, Marie‐Laure Kottler, Marguerite Jambou, Philippe Gosset, Dinane Boustani-Samara, Graziella Pinto, Catherine Ozilou, Geneviève Abéguilé, Arnold Munnich, Serge Romana, O Raoul, Valérie Cormier‐Daire, Michel Vekemans

    Gepubliceerd in 2005
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  8. 8
    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

    Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes door Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Geneviève, Olivier Goulet, Jean‐Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa‐Lyonnet

    Gepubliceerd in 2006
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  9. 9
    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

    Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case door Aurore Carré, Gabor Szinnai, Mireille Castanet, Sylvia Sura‐Trueba, Elodie Tron, Isabelle Broutin, Pascal Barat, Cyril Goizet, Didier Lacombe, M.L. Moutard, C. Raybaud, C. Raynaud-Ravni, Serge Romana, H Ythier, Juliane Léger, Mirosław P. Polak

    Gepubliceerd in 2009
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  10. 10
    Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

    Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation door Aude Magérus‐Chatinet, Bénédicte Neven, Marie–Claude Stolzenberg, Cécile Daussy, Peter D. Arkwright, Nina Lanzarotti, Catherine Schaffner, Sophie Cluet-Dennetiere, Filomeen Haerynck, Gérard Michel, Christine Bôle‐Feysot, Mohammed Zarhrate, Isabelle Radford‐Weiss, Serge Romana, Capucine Pïcard, Alain Fischer, Frédéric Rieux‐Laucat

    Gepubliceerd in 2010
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  11. 11
    Mutation in<i>TET2</i>in Myeloid Cancers

    Mutation in<i>TET2</i>in Myeloid Cancers door François Delhommeau, Sabrina Dupont, Véronique Della Valle, Chloé James, Séverine Trannoy, Aline Massé, Olivier Kosmider, Jean‐Pierre Le Couedic, F. Miller Robert, A. Alberdi, Yann Lécluse, Isabelle Plo, François Dreyfus, Christophe Marzac, Nicole Casadevall, Catherine Lacombe, Serge Romana, Philippe Dessen, Jean Soulier, F Viguié, Michaëla Fontenay, William Vainchenker, Olivier Bernard

    Gepubliceerd in 2009
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  12. 12
    Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection

    Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection door Fanny Lanternier, Elisa Barbati, Ulrich Meinzer, Luyan Liu, Vincent Pedergnana, Mélanie Migaud, Sebastien Héritier, Maryline Chomton, Marie‐Louise Frémond, Emmanuel Gonzalès, Caroline Galeotti, Serge Romana, Emmanuel Jacquemin, A. Angoulvant, Valeska Bidault, Danielle Canioni, Julie Lachenaud, Davood Mansouri, Seyed Alireza Mahdaviani, Parvaneh Adimi, Nahal Mansouri, Mahin Jamshidi Makiani, Marie‐Elisabeth Bougnoux, Laurent Abel, Olivier Lortholary, Stéphane Blanche, Jean‐Laurent Casanova, Capucine Pïcard, Anne Puel

    Gepubliceerd in 2014
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  13. 13
    New insights into genotype–phenotype correlation for GLI3 mutations

    New insights into genotype–phenotype correlation for GLI3 mutations door Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach

    Gepubliceerd in 2014
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  14. 14
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome door Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    Gepubliceerd in 2016
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  15. 15
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features door Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    Gepubliceerd in 2018
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  16. 16
    Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

    Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria door Jérémie Rosain, Anna‐Lena Neehus, Jérémy Manry, Rui Yang, Jérémie Le Pen, Wassim Daher, Zhiyong Liu, Yi‐Hao Chan, Natalia Tahuil, Özden Türel, Mathieu Bourgey, Masato Ogishi, Jean‐Marc Doisne, Helena M. Izquierdo, Takayoshi Shirasaki, Tom Le Voyer, Antoine Guérin, Paul Bastard, Marcela Moncada‐Vélez, Ji Eun Han, Taushif Khan, Franck Rapaport, Seon-Hui Hong, Andrew Cheung, Kathrin Haake, Barbara C. Mindt, Laura Pérez, Quentin Philippot, Danyel Lee, Peng Zhang, Darawan Rinchai, Fatima Al Ali, Manar Ata, Mahbuba Rahman, Jessica N. Peel, Søren Heissel, Henrik Molina, Yasemin Kendir Demirkol, Rasheed Bailey, Shuxiang Zhao, Jonathan Bohlen, Mathieu Mancini, Yoann Seeleuthner, Marie Roelens, Lazaro Lorenzo, Camille Soudée, María Elvira Josefina Paz, María Laura González, Mohamed Jeljeli, Jean Soulier, Serge Romana, Anne-Sophie L’Honneur, Marie Materna, Rubén Martínez‐Barricarte, Mathieu Pochon, Carmen Oleaga‐Quintas, Alexandre Michev, Mélanie Migaud, Romain Lévy, Marie‐Alexandra Alyanakian, Flore Rozenberg, Carys A. Croft, Guillaume Vogt, Jean‐François Emile, Laurent Kremer, S. Cindy, Jörg H. Fritz, Stanley M. Lemon, András N. Spaan, Nicolas Manel, Laurent Abel, Margaret R. MacDonald, Stéphanie Boisson‐Dupuis, Nico Marr, Stuart G. Tangye, James P. Di Santo, Qian Zhang, Shen‐Ying Zhang, Charles M. Rice, Vivien Béziat, Nico Lachmann, David Langlais, Jean‐Laurent Casanova, Philippe Gros, Jacinta Bustamante

    Gepubliceerd in 2023
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