نتائج البحث - Sophie Collardeau‐Frachon

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  1. 1
    Vascular Development and Differentiation During Human Liver Organogenesis

    Vascular Development and Differentiation During Human Liver Organogenesis حسب Sophie Collardeau‐Frachon, Jean–Yves Scoazec

    منشور في 2008
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    Revisão
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  2. 2
    Placental lesions and SARS-Cov-2 infection: Diffuse placenta damage associated to poor fetal outcome

    Placental lesions and SARS-Cov-2 infection: Diffuse placenta damage associated to poor fetal outcome حسب Amine Bouachba, Fabienne Allias, Béatrice Nadaud, J. Massardier, Yahia Mekki, Maude Bouscambert Duchamp, Benoît de la Fournière, Cyril Huissoud, Alexis Trécourt, Sophie Collardeau‐Frachon

    منشور في 2021
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    Artigo
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  3. 3
    Anti-PD1-/PDL1-induced chronic intestinal pseudo-obstruction: three cases treated with vedolizumab after corticosteroid failure with mixed results

    Anti-PD1-/PDL1-induced chronic intestinal pseudo-obstruction: three cases treated with vedolizumab after corticosteroid failure with mixed results حسب M. Zenatri, Michael Collins, Tifanie Alberto, Antonio Farina, Sophie Collardeau‐Frachon, M. Saint‐Jean, François Bocquet, Frédéric Dumont, Jérôme Honnorat, Bastien Joubert, Judith Raimbourg

    منشور في 2025
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    Artigo
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  4. 4
    Prevalence of liver complications in children receiving long-term parenteral nutrition

    Prevalence of liver complications in children receiving long-term parenteral nutrition حسب B Peyret, Sophie Collardeau‐Frachon, Sandrine Touzet, I Loras-Duclaux, Habiba Yantren, Marie‐Caroline Michalski, Jordane Chaix, Lioara Restier‐Miron, R Bouvier, Alain Lachaux, Noël Peretti

    منشور في 2011
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    Artigo
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  5. 5
    The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones

    The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones حسب Carrie R. Sowers, Rong Wang, Rebecca A. Bourne, Barbara C. McGrath, Jingjie Hu, Sarah C. Bevilacqua, James C. Paton, Adrienne W. Paton, Sophie Collardeau‐Frachon, Marc Nicolino, Douglas R. Cavener

    منشور في 2018
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    Artigo
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  6. 6
    Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study

    Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study حسب Rémi Duclaux‐Loras, Fabienne Charbit‐Henrion, Bénédicte Neven, Jan Krzysztof Nowak, Sophie Collardeau‐Frachon, Christophe Malcus, Pierre F. Ray, Despina Moshous, Jacques Beltrand, Olivier Goulet, Nadine Cerf‐Bensussan, Alain Lachaux, Frédéric Rieux‐Laucat, Frank M. Ruemmele

    منشور في 2018
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    Artigo
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  7. 7
    DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

    DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles حسب Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, Alexandre Vasiljevic, Tania Attié‐Bitach, Sophie Collardeau‐Frachon, Julia Morere, Stéphane Roche, Frédérique Magdinier, Jérôme D. Robin, Philippe Rameau, Sandra Whalen, Claude Desnuelle, Sabrina Sacconi, Vincent Mouly, Gillian Butler‐Browne, Julie Dumonceaux

    منشور في 2013
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    Artigo
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  8. 8
    Mutations in CECR1 associated with a neutrophil signature in peripheral blood

    Mutations in CECR1 associated with a neutrophil signature in peripheral blood حسب Alexandre Bélot, Evangeline Wassmer, Marinka Twilt, Jean‐Christophe Lega, Leo Zeef, Anthony Oojageer, Paul R. Kasher, Anne‐Laure Mathieu, Christophe Malcus, Julie Demaret, Nicole Fabien, Sophie Collardeau‐Frachon, Laura Mechtouff, Laurent Derex, Thierry Walzer, Gillian Rice, I. Durieu, Yanick J. Crow

    منشور في 2014
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    Artigo
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  9. 9
    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis حسب M Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzalès, Emilie Filhol, Sophie Collardeau‐Frachon, Marc Jeanpierre, C. Henry, Monique Fabrè, Loïc Viremouneix, Louise Galmiche, Dominique Debray, Christine Bôle‐Feysot, Patrick Nitschké, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurélia Bertholet, Emmanuel Jacquemin, Alexandra Henrion‐Caude, Sophie Saunier

    منشور في 2016
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    Artigo
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  10. 10
    Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

    Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia حسب Dominique Hervé, Anne Philippi, Reda Belbouab, Michel Zérah, Stéphane Chabrier, Sophie Collardeau‐Frachon, Françoise Bergametti, Aurore Essongue, Eliane Berrou, Valérie Krivosic, Christian Sainte‐Rose, Emmanuel Houdart, Frédéric Adam, Kareen Billiemaz, Marilyne Lebret, Sabine Roman, Sandrine Passemard, Gwénola Boulday, Audrey Delaforge, Stéphanie Guey, Xavier Dray, Hugues Chabriat, Peter Brouckaert, Marijke Bryckaert, Elisabeth Tournier‐Lasserve

    منشور في 2014
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    Artigo
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  11. 11
    Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

    Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus حسب Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh‐Chi Bui, Jérémy Berthelet, Audrey Laurent, Étienne Crickx, Marianna Parlato, Marie–Claude Stolzenberg, Felipe Suárez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau‐Frachon, Christine Piétrement, Marion Malphettes, Antoine Froissart, Christine Bôle‐Feysot, Nicolas Cagnard, Fernando Rodrigues‐Lima, Thierry Walzer, Frédéric Rieux‐Laucat, Alexandre Bélot, Anne‐Laure Mathieu

    منشور في 2024
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    Artigo
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  12. 12
    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation حسب Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau‐Frachon, Isabelle Rouvet, Jean‐Luc Alessandri, Louise Devisme, Anne Dieux‐Coëslier, Marie‐Pierre Cordier, Yline Capri, Suonavy Khung‐Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie‐Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié‐Bitach, Marc Jeanpierre, Sophie Saunier

    منشور في 2016
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    Artigo
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  13. 13
    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 حسب 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

    منشور في 2019
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    Artigo
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  14. 14
    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology حسب Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Bénéteau, Pilar Cacheiro, Leigh Carmody, Sophie Collardeau‐Frachon, Esther Dempsey, Andreas Dufke, Michael H. Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grīnfelde, Dominic Gabriel Iliescu, Markus S. Ladewig, Monica Muñoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodó, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa Haendel, Peter N. Robinson

    منشور في 2022
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    Artigo
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  15. 15
    Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury

    Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury حسب David A. Schwartz, Elyzabeth Avvad Portari, Pavel Babál, Marcella Baldewijns, Marie Blomberg, Amine Bouachba, Jessica Camacho, Sophie Collardeau‐Frachon, Arthur Colson, Isabelle Dehaene, Joan Carles Ferreres, Brendan Fitzgerald, Marta Garrido‐Pontnou, Hazem Gergis, Beáta Hargitai, Addy Cecilia Helguera‐Repetto, Sandra Holmström, Claudine Irles, Åsa Leijonhfvud, Sasha Libbrecht, Tamás Marton, Noel McEntagart, James T. Molina, Raffaella Morotti, Alfons Nadal, Alexandra Navarro, Maria Nelander, Angélica Oviedo, Andre Ricardo Oyamada Otani, Nikos Papadogiannakis, Astrid Petersen, Drucilla J. Roberts, Ali G. Saad, Anna Sand, Sam Schoenmakers, Jennifer K. Sehn, Preston R. Simpson, Kristen Thomas, María Yolotzin Valdespino-Vázquez, Lotte E. van der Meeren, Jo Van Dorpe, Robert M. Verdijk, Jaclyn C. Watkins, Mehreen Zaigham

    منشور في 2022
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    Artigo
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