检索结果 - P. Vabres
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Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity 由 F. Caux, Henri Plauchu, Frédéric Chibon, Laurence Faivre, Olivier Fain, P. Vabres, Françoise Bonnet, Zied Ben Selma, L. Laroche, Marion Gérard, Michel Longy
出版 2007Artigo -
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Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome 由 J. Plée, Sébastien Le Jan, Jérôme Giustiniani, Coralie Barbe, P. Joly, C. Bédane, P. Vabres, F. Truchetet, F. Aubin, Frank Antonicelli, Philippe Bernard
出版 2015Artigo -
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Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease 由 S. Hadj‐Rabia, Lekbir Baala, P. Vabres, Dominique Hamel‐Teillac, Emmanuel Jacquemin, Monique Fabrè, Stanislas Lyonnet, Y. De Prost, Arnold Münnich, Michelle Hadchouel, Asma Smahi
出版 2004Artigo -
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Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies 由 Veronica A. Kinsler, Sven Krengel, Jean‐Baptiste Rivière, Regula Waelchli, Carolina Chapusot, Lara Al-Olabi, Laurence Faivre, Holger A. Haenssle, Lisa Weibel, G. Jeudy, P. Vabres
出版 2014Carta -
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Prevalence of inherited ichthyosis in France: a study using capture-recapture method 由 I. Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, C. Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, P. Vabres, Ludovic Martin, S. Mallet, S. Barbarot, Jérôme A. Dupuis, J. Mazereeuw‐Hautier
出版 2014Artigo -
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Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement 由 Kévin Bouiller, S. Audia, H. Devilliers, Evelyne Collet, Marie Hélène Aubriot, V. Leguy‐Seguin, S. Berthier, Philippe Bonniaud, P. Chavanet, J.-F. Besancenot, P. Vabres, Laurent Martin, Maxime Samson, Bernard Bonnotte
出版 2016Artigo -
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Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex 由 Jennifer Brun, C. Chiavérini, Caroline Devos, Stéphanie Leclerc‐Mercier, J. Mazereeuw‐Hautier, E. Bourrat, A. Maruani, S. Mallet, C. Abasq, Alice Phan, P. Vabres, Ludovic Martin, Christine Bodemer, S. Lagrange, J.‐P. Lacour
出版 2017Artigo -
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Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS) 由 Guillaume Canaud, Juan Carlos López‐Gutiérrez, Alan D. Irvine, P. Vabres, Jordan R. Hansford, Nii Ankrah, Fabrice Branle, Athanasia Papadimitriou, Antonia Ridolfi, P.R. O'Connell, Stuart Turner, Denise M. Adams
出版 2023Artigo -
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Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment 由 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
出版 2018Artigo -
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Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations 由 Guillaume Banneau, Mickaël Guedj, Gaëtan MacGrogan, Isabelle de Mascarel, Valérie Velasco, Renaud Schiappa, Valérie Bonadona, Albert David, Catherine Dugast, Brigitte Gilbert‐Dussardier, Olivier Ingster, P. Vabres, F. Caux, Aurélien de Reyniès, Richard Iggo, Nicolas Sévenet, Françoise Bonnet, Michel Longy
出版 2010Artigo -
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Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation 由 Pascal Brouillard, Laurence M. Boon, Nicole Revençu, J. Berg, A. Dompmartin, Josée Dubois, Maria C. Garzón, Simon Holden, Loshan Kangesu, Christine Labrèze, Sally Ann Lynch, C McKeown, Raimundas Meškauskas, I. Quéré, Samira Syed, P. Vabres, Michel Wassef, John B. Mulliken, Miikka Vikkula
出版 2013Artigo -
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SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia 由 Éric Pasmant, Brigitte Gilbert‐Dussardier, Arnaud Petit, Bérengère de Laval, Armelle Luscan, Aurélia Gruber, Hélène Lapillonne, Caroline Deswarte, P. Goussard, Ingrid Laurendeau, Benjamin Uzan, Françoise Pflumio, Françoise Brizard, P. Vabres, I Naguibvena, S. Fasola, Frédéric Millot, Françoise Porteu, Dominique Vidaud, Judith Landman‐Parker, Paola Ballerini
出版 2014Artigo -
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Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma 由 Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre
出版 2014Artigo -
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 由 Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy
出版 2004Artigo -
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A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement 由 Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker
出版 2021Revisão -
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Sirolimus (Rapamycin) for Slow-Flow Malformations in Children 由 A. Maruani, Elsa Tavernier, O. Boccara, J. Mazereeuw‐Hautier, Sophie Leducq, D. Bessis, Laurent Guibaud, P. Vabres, Virginie Carmignac, S. Mallet, S. Barbarot, C. Chiavérini, C. Droitcourt, A.‐C. Bursztejn, Céline Lengellé, Jean‐Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aline Joly, C. Léauté‐Labrèze, Julie Powell, Hélène Bourgoin, Valérie Gissot, Bruno Giraudeau, Baptiste Morel
出版 2021Artigo -
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Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis 由 Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière, Ryan F.L. O’Shaughnessy, Lara Al-Olabi, Judith St.-Onge, David J. Atherton, H. Aubert, Lorea Bagazgoitia, S. Barbarot, E. Bourrat, C. Chiavérini, W.K. Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, S. Hadj‐Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, J.‐P. Lacour, Regula Waelchli, Marion Wobser, P. Vabres, E. Elizabeth Patton, Veronica A. Kinsler
出版 2016Artigo
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