Resultats de la cerca - Fanny Morice‐Picard

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  1. 1
    Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review

    Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic... per Hugo Fournier, Nicolas Calcagni, Fanny Morice‐Picard, Bruno Quintard

    Publicat 2023
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  2. 2
    Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non‐segmental vitiligo

    Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non‐segmental vitiligo per Alain Taı̈eb, Fanny Morice‐Picard, Thomas Jouary, Khaled Ezzedine, Muriel Cario, Yvon Gauthier

    Publicat 2008
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  3. 3
    New clinico‐genetic classification of trichothiodystrophy

    New clinico‐genetic classification of trichothiodystrophy per Fanny Morice‐Picard, Muriel Cario, Hamid Rezvani, Didier Lacombe, Alain Sarasin, Alain Taı̈eb

    Publicat 2009
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  4. 4
    Molecular characterization of a series of 990 index patients with albinism

    Molecular characterization of a series of 990 index patients with albinism per Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler

    Publicat 2018
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  5. 5
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients per Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    Publicat 2011
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  6. 6
    Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

    Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis per Alrun Hotz, Vinzenz Oji, E. Bourrat, Nathalie Jonca, J. Mazereeuw‐Hautier, Regina C. Betz, Ulrike Blume‐Peytavi, K Stieler, Fanny Morice‐Picard, I Schönbuchner, S Markus, Nina Schlipf, Johannes C. Fischer

    Publicat 2015
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  7. 7
    Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation

    Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation per Emeline Laborel-Préneron, Pascale Bianchi, F. Boralévi, Philippe Lehours, Frédérique Fraysse, Fanny Morice‐Picard, Motoyuki Sugai, Yusuke Sato’o, Cédric Badiou, Gérard Lina, Anne-Marie Schmitt, D. Redoulès, Christiane Casas, Christian Davrinche

    Publicat 2015
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  8. 8
    Cole Disease Results from Mutations in ENPP1

    Cole Disease Results from Mutations in ENPP1 per Ori Eytan, Fanny Morice‐Picard, Ofer Sarig, Khaled Ezzedine, Ofer Isakov, Qiaoli Li, Akemi Ishida‐Yamamoto, Noam Shomron, Tomer Goldsmith, Dana Fuchs‐Telem, Noam Adir, Jouni Uitto, Seth J. Orlow, Alain Taı̈eb, Eli Sprecher

    Publicat 2013
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  9. 9
    Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

    Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment per E. Castela, Meri K. Tulić, Aurore Rozières, E. Bourrat, Jean‐François Nicolas, Jean Kanitakis, P. Vabres, D. Bessis, J. Mazereeuw‐Hautier, Fanny Morice‐Picard, David Baty, F. Bérard, J.‐P. Lacour, Thierry Passeron, C. Chiavérini

    Publicat 2018
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  10. 10
    ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

    ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation per Carine Le Goff, Fanny Morice‐Picard, Nathalie Dagoneau, Lauren W. Wang, Claire Perrot, Yanick J. Crow, Florence Bauer, Elisabeth Flori, C. Prost‐Squarcioni, Deborah Krakow, Gaoxiang Ge, Daniel S. Greenspan, Damien Bonnet, Martine Le Merrer, Arnold Münnich, Suneel Apte, Valérie Cormier‐Daire

    Publicat 2008
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  11. 11
    Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA Repair

    Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA Repair per Andrey A. Yurchenko, Fatemeh Rajabi, Tirzah Braz Petta Lajus, Hiva Fassihi, Alan R. Lehmann, Chikako Nishigori, Ismaël Padioleau, Konstantin Gunbin, Leonardo Panunzi, Fanny Morice‐Picard, Pierre Laplante, Caroline Robert, Patricia Kannouche, Carlos Frederico Martins Menck, Alain Sarasin, Sergey I. Nikolaev

    Publicat 2022
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  12. 12
    BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

    BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome per Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, V. Coste, Jean‐Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoı̂t Arveiler

    Publicat 2020
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  13. 13
    Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients

    Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients per Andrey A. Yurchenko, Fatemeh Rajabi, Tirzah Braz Petta Lajus, Hiva Fassihi, Alan R. Lehmann, Chikako Nishigori, Jinxin Wang, Ismaël Padioleau, Konstantin Gunbin, Leonardo Panunzi, Fanny Morice‐Picard, Pierre Laplante, Caroline Robert, Patricia Kannouche, Carlos Frederico Martins Menck, Alain Sarasin, Sergey I. Nikolaev

    Publicat 2023
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  14. 14
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype per Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Publicat 2009
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  15. 15
    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation per Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, E. Bourrat, Odile Boute, Nenad Bukvić, A.‐C. Bursztejn, C. Chiavérini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S. Hadj‐Rabia, A. Mahé, A. Maruani, J. Mazereeuw‐Hautier, Cyril Mignot, Fanny Morice‐Picard, Marie‐Laure Moutard, Florence Petit, Justine Pasteur, Alice Phan, Sandra Whalen, Marjolaine Willems, Christophe Philippe, P. Vabres

    Publicat 2019
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  16. 16
    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia per Marie Coutelier, Cyril Goizet, Alexandra Dürr, Florence Habarou, Sara Morais, Alexandre Dionne‐Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schüle, Maxime Janin, Fanny Morice‐Picard, Christelle Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy A. Rouleau, Alexis Brice, Garth A. Nicholson, Frédéric Darios, José L. Loureiro, Stephan Züchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stévanin

    Publicat 2015
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  17. 17
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome per Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Publicat 2018
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  18. 18
    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas per Élodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, S. Hadj‐Rabia, Nicolas Cagnard, François Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayça Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice‐Picard, B. Labeille, F. Caux, J. Mazereeuw‐Hautier, Nicole Philip, Nicolas Lévy, Alain Taı̈eb, Marie-Françoise Avril, Denis J. Headon, Gàbor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, P. Vabres, Daniel Hohl, Arnold Münnich, Asma Smahi

    Publicat 2017
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  19. 19
    Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

    Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009 per Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, Claudine Blanchet Bardon, Christine Bodemer, E. Bourrat, Philippe Coudiere, John J. DiGiovanna, Peter M. Elias, Judith Fischer, Philip Fleckman, M. Gina, John Harper, Takashi Hashimoto, Ingrid Haußer, Hans Christian Hennies, Daniel Hohl, Alain Hovnanian, Akemi Ishida‐Yamamoto, W.K. Jacyk, Sancy A. Leachman, Irene M. Leigh, J. Mazereeuw‐Hautier, Leonard M. Milstone, Fanny Morice‐Picard, Amy S. Paller, Gabriele Richard, Matthias Schmuth, Hiroshi Shimizu, Eli Sprecher, Maurice A. M. Van Steensel, Alain Taı̈eb, Jorge R. Toro, P. Vabres, Anders Vahlquist, Mary L. Williams, Heiko Traupe

    Publicat 2010
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  20. 20
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling per Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik

    Publicat 2013
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