Bilaketaren emaitzak - Mélanie Parisot

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  1. 1
    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man nork Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jéléna Martinovic, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

    Argitaratua 2012
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  2. 2
    ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

    ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development nork Nadjet Gacem, Anthula Kavo, Lisa Zerad, Laurence Richard, Stéphane Mathis, Raj P. Kapur, Mélanie Parisot, Jeanne Amiel, Sylvie Dufour, Pierre de la Grange, Véronique Pingault, J.M. Vallat, Nadège Bondurand

    Argitaratua 2020
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  3. 3
    Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes

    Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes nork Albert Pérez‐Martí, Suresh Krishna Ramakrishnan, Jiayi Li, Aurélien Dugourd, Martijn R. Molenaar, Luigi R. De La Motte, Kelli Grand, Anis Mansouri, Mélanie Parisot, Soeren S. Lienkamp, Julio Sáez-Rodríguez, Matias Simons

    Argitaratua 2022
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  4. 4
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population nork Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    Argitaratua 2016
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  5. 5
    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation nork David Buchbinder, Jeffrey R. Stinson, Diane J. Nugent, Lucie Heurtier, Felipe Suárez, Gauthaman Sukumar, Clifton L. Dalgard, Cécile Masson, Mélanie Parisot, Yu Zhang, Helen Matthews, Helen C. Su, Anne Durandy, Alain Fischer, Sven Kracker, Andrew L. Snow

    Argitaratua 2015
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  6. 6
    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

    RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects nork Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon

    Argitaratua 2011
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  7. 7
    Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

    Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) nork Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie‐Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoît Dumont, Delphine Turpin, Étienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Pïcard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stéphan, Sven Kracker

    Argitaratua 2017
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  8. 8
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans nork Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre

    Argitaratua 2014
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  9. 9
    Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa

    Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa nork Sabine Duchatelet, S. Miskinyte, M. Delage, Marie‐Noëlle Ungeheuer, Thi Lam, Farida Benhadou, V. del Mármol, Allard R.J.V. Vossen, Errol P. Prens, O. Cogrel, M. Beylot‐Barry, C. Girard, Julien Vidil, Olivier Join‐Lambert, Mélanie Parisot, Patrick Nitschké, Sylvain Hanein, Sylvie Fraitag, Hessel H. van der Zee, D. Bessis, Giovanni Damiani, Andrea Altomare, Yi‐Hua Liao, Georgios Nikolakis, Christos C. Zouboulis, Aude Nassif, Alain Hovnanian

    Argitaratua 2020
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  10. 10
    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome nork Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, D. Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Névo, Ewen Lescop, Daniela A. Braun, Anne‐Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau‐Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet

    Argitaratua 2019
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  11. 11
    Somatic genetic rescue of a germline ribosome assembly defect

    Somatic genetic rescue of a germline ribosome assembly defect nork Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Jin Li, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle‐Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford‐Weiss, Frédéric Torès, Jean‐Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné‐Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

    Argitaratua 2021
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  12. 12
    A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis

    A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis nork Camille de Cevins, Marine Luka, Nikaïa Smith, Sonia Meynier, Aude Magérus‐Chatinet, Francesco Carbone, Víctor Paredes, Laura Barnabei, Maxime Batignes, Alexandre Boullé, Marie–Claude Stolzenberg, Brieuc P. Pérot, Bruno Charbit, Tinhinane Fali, Vithura Pirabakaran, Boris Sorin, Quentin Riller, Ghaith Abdessalem, Maxime Beretta, Ludivine Grzelak, Pedro Gonçalves, James P. Di Santo, Hugo Mouquet, Olivier Schwartz, Mohammed Zarhrate, Mélanie Parisot, Christine Bôle‐Feysot, Cécile Masson, Nicolas Cagnard, Aurélien Corneau, Camille Brunaud, Shen‐Ying Zhang, Jean‐Laurent Casanova, Brigitte Bader‐Meunier, Julien Haroche, Isabelle Melki, Mathie Lorrot, Mehdi Oualha, Florence Moulin, Damien Bonnet, Zahra Belhadjer, Marianne Leruez, Slimane Allali, Christèle Gras‐Le Guen, Loïc de Pontual, Alain Fischer, Darragh Duffy, Frédéric Rieux‐Laucat, Julie Toubiana, Mickaël M. Ménager

    Argitaratua 2021
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  13. 13
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 nork Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Argitaratua 2020
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