Search Results - Patrick Callier
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Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study by Nicolas Wagneur, Patrick Callier, Jean-David Zeitoun, Denise Silber, Remi Sabatier, Fabrice Denis
Published in Journal of Medical Internet Research (2022-07-01)Get full text
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Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies by Julien Magne, Alizée Jenvrin, Adrien Chauchet, Olivier Casasnovas, Anne Donzel, Laurence Jego, Bernard Aral, Julien Guy, Nathalie Nadal, Dewi Vernerey, Patrick Callier, Francine Garnache-Ottou, Christophe Ferrand
Published in Experimental Hematology & Oncology (2018-02-01)Get full text
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Somatic cell reprogramming from different origins and donors into iPSC, with four factors OSKM using viral Sendai vectors by Romain Desprat, Mikael Magnano, Paul Bensadoun, Mathis Soubeyrand, Patrick Callier, Quentin Alle, Anaelle Bailly, Benjamin Gantenbein, Lisanne T. Laagland, Mariana Tryfonidou, Jerome Guicheux, Anne Camus, Ollivier Milhavet, Jean-Marc Lemaitre
Published in Stem Cell Research (2025-08-01)Get full text
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Valrubicin-loaded immunoliposomes for specific vesicle-mediated cell death in the treatment of hematological cancers by Aleksandra Georgievski, Pierre-Simon Bellaye, Benjamin Tournier, Hélène Choubley, Jean-Paul Pais de Barros, Michaële Herbst, Arnaud Béduneau, Patrick Callier, Bertrand Collin, Frédérique Végran, Paola Ballerini, Carmen Garrido, Ronan Quéré
Published in Cell Death and Disease (2024-05-01)Get full text
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An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation. by Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier
Published in PLoS ONE (2013-01-01)Get full text
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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations by Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Geneviève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Emmanuelle Haquet, Patrick Callier, David Geneviève, Franck Pellestor, Jacques Puechberty
Published in Molecular Genetics & Genomic Medicine (2019-11-01)Get full text
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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef
Published in PLoS Genetics (2014-05-01)Get full text
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Published in Nature Communications (2022-10-01)Get full text
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Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization by Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
Published in Molecular Genetics & Genomic Medicine (2020-03-01)Get full text
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders by Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Aparecido Divino da Cruz, Irene Plaza Pinto, Irene Plaza Pinto, Lysa Bernardes Minasi, Lysa Bernardes Minasi, Alex Silva da Cruz, Alex Silva da Cruz, Laurence Faivre, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim
Published in Frontiers in Molecular Neuroscience (2022-10-01)Get full text
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... by Estelle Colin, Estelle Colin, Yannis Duffourd, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Julian Delanne, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Martin Chevarin, Charlotte Poë, Charlotte Poë, Victor Couturier, Victor Couturier, Valentin Bourgeois, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Robert Olaso, Christophe Philippe, Christophe Philippe, Bekim Sadikovic, Bekim Sadikovic, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Jean-François Deleuze, Jean-François Deleuze, Antonio Vitobello, Antonio Vitobello
Published in Frontiers in Cell and Developmental Biology (2022-10-01)Get full text
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