Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Emmanuelle Bourrat"'
Autor:
Hélène Martin, Xavier Balguerie, Juliette Mazereeuw-Hautier, Fanny Morice-Picard, Christine Chiaverini, Emmanuelle Bourrat, Didier Bessis, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Publikováno v:
Pediatric Dermatology. 37:839-843
Background The diagnosis of PTEN hamartoma tumor syndrome (PHTS) is difficult in children because they usually do not meet diagnostic criteria. The objective of our study was to characterize lipoma as an early presentation of PHTS. Methods We perform
Autor:
Dimitra Kiritsi, Franziska Schauer, Samar Sadeghi, May El Hachem, Martin Laimer, Giovanna Zambruno, Kathrin Dieter, Markus H. Frank, Christen L. Ebens, Emmanuelle Bourrat, Anna E. Martinez, Stella Gewert, Elke Niebergall-Roth, Sophie Kitzmüller, Silvia Fluhr, Cristina Daniele, Natasha Y. Frank, Jasmina Esterlechner, Jakub Tolar, Seda Ballikaya, Maria Papanikolaou, Johann W. Bauer, Christoph Ganss, Alain Hovnanian, John A. McGrath, Leoni Erdinger, Gabriela Petrof, Mark A. Kluth
Publikováno v:
JCI Insight
Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder due to a lack of functional type VII collagen, for which no effective therapy exists. ABCB5-positive dermal me
Autor:
Jean-Pierre Hugot, Lucienne Chatenoud, Olivier Courbette, Christine Martinez-Vinson, Baptiste Louveau, Jérôme Viala, Camille Aupiais, Emmanuelle Bourrat
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 69:189-193
Objectives In adult inflammatory bowel disease (IBD) treated by anti-TNF antibodies, paradoxical psoriasis has an estimated prevalence of 1.6 to 22%, especially in infliximab (IFX)-treated patients. Little is known in the pediatric IBD (PIBD) populat
Autor:
Guy Leverger, Marie-Amelyne Le Rouzic, Christian Rose, Laila Hessissen, Nadja Jäkel, Bertrand Isidor, Stéphane Ducassou, Patrick Lutz, Sophie Bayart, Cyrielle Fouquet, Mony Fahd, Emmanuelle Bourrat, Marlène Pasquet, Fanny Fouyssac, Mohamed Touati, Isabelle Thuret, Thierry Leblanc, Christiane Vermylen, Ralf Knoefler, Sandrine Marlin, Thomas Matthes, Valerie Triolo, Emmanuel Raffoux, Jean-Pierre Vannier, Caroline Kannengiesser
Publikováno v:
British Journal of Haematology, Vol. 187, No 4 (2019) pp. 530-542
Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a c
Autor:
Florence Uettwiller, Makoto Miyara, François-Jérôme Authier, Maria José Martin-Niclos, Pierre Quartier, Alice Lepelley, Nicole Fabien, Alexandre Belot, Yanick J. Crow, Alice Hadchouel, Isabelle Melki, Emmanuelle Bourrat, Albert Faye, Darragh Duffy, Theresa Kwon, Brigitte Bader-Meunier, Carolina Uggenti, Sasi Mudumba, Lucile Musset, Gillian I. Rice, Vincent Bondet, Jean-Luc Charuel, Cyril Gitiaux, Naoki Kitabayashi, Cécile Dumaine, Marie-Louise Frémond, Christine Bodemer, Luis Seabra, Sébastien Viel, Plamen Bokov, Mathieu P Rodero, Yves Allenbach, Hervé Devilliers, Ahmed Kheniche
Publikováno v:
Rheumatology
Rheumatology, Oxford University Press (OUP), 2020, 59 (8), pp.1927-1937. ⟨10.1093/RHEUMATOLOGY/KEZ525⟩
Rheumatology, Oxford University Press (OUP), 2020, 59 (8), pp.1927-1937. ⟨10.1093/rheumatology/kez525⟩
Rheumatology, 2020, 59 (8), pp.1927-1937. ⟨10.1093/rheumatology/kez525⟩
Melki, I, Devilliers, H, Gitiaux, C, Bondet, V, Duffy, D, Charuel, J-L, Miyara, M, Bokov, P, Kheniche, A, Kwon, T, Authier, F-J, Allenbach, Y, Belot, A, Bodemer, C, Bourrat, E, Dumaine, C, Fabien, N, Faye, A, Frémond, M-L, Hadchouel, A, Kitabayashi, N, Lepelley, A, Martin-Niclos, M J, Mudumba, S, Musset, L, Quartier, P, Rice, G I, Seabra, L, Uettwiller, F, Uggenti, C, Viel, S, Rodero, M P, Crow, Y & Bader-Meunier, B 2019, ' Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling ', Rheumatology . https://doi.org/10.1093/rheumatology/kez525
Melki, I, Devilliers, H, Gitiaux, C, Bondet, V, Duffy, D, Charuel, J-L, Miyara, M, Bokov, P, Kheniche, A, Kwon, T, Authier, F J, Allenbach, Y, Belot, A, Bodemer, C, Bourrat, E, Dumaine, C, Fabien, N, Faye, A, Frémond, M-L, Hadchouel, A, Kitabayashi, N, Lepelley, A, Martin-Niclos, M J, Mudumba, S, Musset, L, Quartier, P, Rice, G I, Seabra, L, Uettwiller, F, Uggenti, C, Viel, S, Rodero, M P, Crow, Y J & Bader-Meunier, B 2020, ' Anti-MDA5 juvenile idiopathic inflammatory myopathy : a specific subgroup defined by differentially enhanced interferon-α signalling ', Rheumatology (Oxford, England) . https://doi.org/10.1093/rheumatology/kez525
Rheumatology, Oxford University Press (OUP), 2020, 59 (8), pp.1927-1937. ⟨10.1093/RHEUMATOLOGY/KEZ525⟩
Rheumatology, Oxford University Press (OUP), 2020, 59 (8), pp.1927-1937. ⟨10.1093/rheumatology/kez525⟩
Rheumatology, 2020, 59 (8), pp.1927-1937. ⟨10.1093/rheumatology/kez525⟩
Melki, I, Devilliers, H, Gitiaux, C, Bondet, V, Duffy, D, Charuel, J-L, Miyara, M, Bokov, P, Kheniche, A, Kwon, T, Authier, F-J, Allenbach, Y, Belot, A, Bodemer, C, Bourrat, E, Dumaine, C, Fabien, N, Faye, A, Frémond, M-L, Hadchouel, A, Kitabayashi, N, Lepelley, A, Martin-Niclos, M J, Mudumba, S, Musset, L, Quartier, P, Rice, G I, Seabra, L, Uettwiller, F, Uggenti, C, Viel, S, Rodero, M P, Crow, Y & Bader-Meunier, B 2019, ' Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling ', Rheumatology . https://doi.org/10.1093/rheumatology/kez525
Melki, I, Devilliers, H, Gitiaux, C, Bondet, V, Duffy, D, Charuel, J-L, Miyara, M, Bokov, P, Kheniche, A, Kwon, T, Authier, F J, Allenbach, Y, Belot, A, Bodemer, C, Bourrat, E, Dumaine, C, Fabien, N, Faye, A, Frémond, M-L, Hadchouel, A, Kitabayashi, N, Lepelley, A, Martin-Niclos, M J, Mudumba, S, Musset, L, Quartier, P, Rice, G I, Seabra, L, Uettwiller, F, Uggenti, C, Viel, S, Rodero, M P, Crow, Y J & Bader-Meunier, B 2020, ' Anti-MDA5 juvenile idiopathic inflammatory myopathy : a specific subgroup defined by differentially enhanced interferon-α signalling ', Rheumatology (Oxford, England) . https://doi.org/10.1093/rheumatology/kez525
Objectives JDM and juvenile overlap myositis represent heterogeneous subtypes of juvenile idiopathic inflammatory myopathy (JIIM). Chronic evolution can occur in up to 60% of cases, and morbidity/mortality is substantial. We aimed to describe the cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a37a26927293cef084123419c8adb1
https://hal.archives-ouvertes.fr/hal-02996374
https://hal.archives-ouvertes.fr/hal-02996374
Autor:
Christophe Philippe, Florence Petit, Justine Pasteur, Sandra Whalen, J. Mazereeuw, Nenad Bukvic, Annabel Maruani, Arthur Sorlin, Marjolaine Willems, V. Carmignac, Emmanuelle Bourrat, Alice Goldenberg, Maud Jordan, Pierre Vabres, Smail Hadj-Rabia, Marine Fournet, Bruno Delobel, Jehanne Martel, Anne-Claire Bursztejn, Alice Phan, Fanny Morice-Picard, Cyril Mignot, Luca Borradori, Odile Boute, Paul Kuentz, Antoine Mahé, Marie-Laure Moutard, Juliette Albuisson, Christine Chiaverini
Publikováno v:
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; ... (2020). Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Journal of investigative dermatology, 140(5), 1106-1110.e2. Elsevier 10.1016/j.jid.2019.08.455
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
International audience; No abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152c5c8ffb4444f2b96266b779639851
https://boris.unibe.ch/136733/1/borradori.pdf
https://boris.unibe.ch/136733/1/borradori.pdf
Publikováno v:
Pediatric Dermatology. 35:548-551
Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of M
Autor:
Cédric Lenormand, Emmanuelle Bourrat, Matthieu Say, Christine Chiaverini, Franck Boralevi, Emmanuel Mahé, Nathalie Beneton, Marion Lagaude, Vincent Descamps, Anne-Claire Bursztejn, Eric Estève, Aurélie Acher, Christine Bodemer, Jean-Philippe Lacour, Denis Jullien, Marie-Aleth Richard, A. Phan
Publikováno v:
American Journal of Clinical Dermatology. 19:609-615
Psoriasis affects 2–4% of the population, with the most common clinical type being plaque psoriasis. The linear form of psoriasis is very rare. The literature on linear psoriasis (LP) consists of only case reports, and data are few. This study aime
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 144:799-803
Summary Background Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified.
Autor:
Benedikt Weber, Alrun Hotz, Karola Stieler, Philipp Demmer, Gwang-Jin Kim, V. Kunde, Stéphanie Leclerc-Mercier, Cristina Has, N. Schlipf, Anders Vahlquist, Ingrid Hausser, Vinzenz Oji, J. Küsel, Judith Fischer, Andreas Zimmer, Franz P.W. Radner, Emmanuelle Bourrat
Publikováno v:
British Journal of Dermatology. 177:445-455
Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by cornification and differentiation defects of keratinocytes. Mutations in nine genes including PNPLA1 ar