Výsledky vyhledávání - Philippe, Christophe

The co-inhibitory molecule PD-L1 contributes to regulatory T cell-mediated protection in murine crescentic glomerulonephritis Autor Neumann, Katrin, Ostmann, Annett, Breda, Philippe Christophe, Ochel, Aaron, Tacke, Frank, Paust, Hans-Joachim, Panzer, Ulf, Tiegs, Gisa

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Dupilumab (Dupixent®) tends to be an effective therapy for uncontrolled severe chronic rhinosinusitis with nasal polyps: real data of a single-centered, retrospective single-arm lo... Autor Florian Jansen, Benjamin Becker, Jördis Kristin Eden, Philippe Christophe Breda, Amra Hot, Tim Oqueka, Christian Betz, Anna Sophie Hoffmann

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Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature Autor Taylor, James, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Philippe, Christophe, Bruel, Ange‐Line, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, Meena

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Extended spectrum of MBD5 mutations in neurodevelopmental disorders Autor Bonnet, Céline, Ali Khan, Asma, Bresso, Emmanuel, Vigouroux, Charlène, Béri, Mylène, Lejczak, Sarah, Deemer, Bénédicte, Andrieux, Joris, Philippe, Christophe, Moncla, Anne, Giurgea, Irina, Devignes, Marie-Dominique, Leheup, Bruno, Jonveaux, Philippe

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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements Autor Allou, Lila, Lambert, Laetitia, Amsallem, Daniel, Bieth, Eric, Edery, Patrick, Destrée, Anne, Rivier, François, Amor, David, Thompson, Elizabeth, Nicholl, Julian, Harbord, Michael, Nemos, Christophe, Saunier, Aline, Moustaïne, Aissa, Vigouroux, Adeline, Jonveaux, Philippe, Philippe, Christophe

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A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy Autor Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio

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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4 Autor Sloboda, Natacha, Lambert, Laetitia, Ciorna, Viorica, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Gomola, Vladimir, Lemelle, Jean‐Louis, Klein, Olivier, Camoin‐Schweitzer, Marie‐Christine, Magnavacca, Marie, Legagneur, Carole, Ezsto, Marie‐Laure, Bonnet, Céline, Philippe, Christophe, Leheup, Bruno

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Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders Autor Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing Autor Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia Autor Thevenon, Julien, Duplomb, Laurence, Phadke, Shubha, Eguether, Thibaut, Saunier, Aline, Avila, Magali, Carmignac, Virginie, Bruel, Ange-Line, St-Onge, Judith, Duffourd, Yannis, Pazour, Gregory J., Franco, Brunella, Attie-Bitach, Tania, Masurel-Paulet, Alice, Rivière, Jean-Baptiste, Cormier-Daire, Valérie, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients Autor Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases Autor Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, Thauvin‐Robinet, Christel

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Variants of human CLDN9 cause mild to profound hearing loss Autor Ramzan, Memoona, Philippe, Christophe, Belyantseva, Inna A., Nakano, Yoko, Fenollar-Ferrer, Cristina, Tona, Risa, Yousaf, Rizwan, Basheer, Rasheeda, Imtiaz, Ayesha, Faridi, Rabia, Munir, Zunaira, Idrees, Hafiza, Salman, Midhat, Nambot, Sophie, Vitobello, Antonio, Kartti, Souad, Zarrik, Oumaima, Witmer, P. Dane, Sobreria, Nara, Ibrahimi, Azeddine, Banfi, Botond, Moutton, Sebastien, Friedman, Thomas B., Naz, Sadaf

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum Autor Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B., Bayat, Allan, Kitzler, Thomas M., Brownstein, Catherine A., Genetti, Casie A., Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W., Zhu, Zehua, Vachet, Clemence, Wilson, Gena R., Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene Autor Degrolard-Courcet, Emilie, Sokolowska, Joanna, Padeano, Marie-Martine, Guiu, Séverine, Bronner, Myriam, Chery, Carole, Coron, Fanny, Lepage, Côme, Chapusot, Caroline, Loustalot, Catherine, Jouve, Jean-Louis, Hatem, Cyril, Ferrant, Emmanuelle, Martin, Laurent, Coutant, Charles, Baurand, Amandine, Couillault, Gérard, Delignette, Alexandra, El Chehadeh, Salima, Lizard, Sarab, Arnould, Laurent, Fumoleau, Pierre, Callier, Patrick, Mugneret, Francine, Philippe, Christophe, Frebourg, Thierry, Jonveaux, Philippe, Faivre, Laurence

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 Autor Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 Autor Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Autor Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Autor Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Autor Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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