Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Emmanuelle Bourrat"'
Publikováno v:
Journal of Clinical Immunology
Autor:
Michel De La Brassinne, Alain Hovnanian, Guy Bricteux, C. Barbieux, Mathilde Bonnet des Claustres, Martine Bagot, Emmanuelle Bourrat
Publikováno v:
Journal of the American Academy of Dermatology. 84:1476-1480
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:
Groupe de Recherche de la Société Française de Dermatologie Pédiatrique, Emmanuelle Bourrat, Brigitte Bader-Meunier, Albert Faye, Isabelle Melki, Agnes Duquesne, Ulrich Meinzer, Hélène See, Caroline Juillard
Publikováno v:
The Journal of Rheumatology. 47:1793-1799
ObjectiveAcne fulminans (AF) is a rare, explosive systemic form of acne. Chronic nonbacterial osteomyelitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) is a primarily pediatric autoinflammatory disorder characterized by sterile osteoly
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 147:258-264
Resume Introduction Le lupus erythemateux neonatal (LENN) est une affection rare secondaire au passage transplacentaire d’anticorps anti-nucleaires maternels le plus souvent de type anti-SSA/Ro. Les manifestations les plus frequentes sont dermatolo
Autor:
Davide Brognoli, Andreas Zimmer, Lisa Heinz, Pierre Vabres, Judith Fischer, Cristina Has, Ingrid Hausser, Slaheddine Marrakchi, Vinzenz Oji, Alrun Hotz, Alan D. Irvine, Ulrike Blume-Peytavi, Geoffroy Hickman, Nadja Ballin, Bakar Bouadjar, Gianluca Tadini, Marina Reitenbach, Henning Hamm, Emmanuelle Bourrat, Diana Mitter, J. Küsel, Stéphanie Leclerc-Mercier, Svenja Alter
Publikováno v:
Human Mutation. 40:2318-2333
Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa‐Like Domain‐Containing 4) is the second most commonly
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:
Khaled Ezzedine, Emmanuelle Bourrat, Anette Bygum, Anders Vahlquist, Christine Bodemer, A. Pietrzak, Smail Hadj-Rabia, Judith Fischer, C. Gouveia, Andrea Diociaiuti, Hagen Ott, Juliette Mazereeuw-Hautier, D.G. Paige, A. Audouze, Robert Gruber, Michael C. Rodriguez, Heiko Traupe, Matthias Schmuth, C. Amaro, D. Maier, G. Wehr, Edel A. O'Toole, M. El Hachem, M. Moreen, J.C. Sitek, Daniel Hohl, Ángela Hernández‐Martín, Agneta Gånemo, Vinzenz Oji, Nathalie Jonca, Isabelle Dreyfus, Raman Malhotra, Mateja Dolenc-Voljč, M. Aldwin, P.M. Steijlen, F. Poot
Publikováno v:
British Journal of Dermatology, 180(3), 484-495. Wiley
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.484-495. ⟨10.1111/bjd.16882⟩
Mazereeuw-Hautier, J, Hernandez-Martin, A, O'Toole, E A, Bygum, A, Amaro, C, Aldwin, M, Audouze, A, Bodemer, C, Bourrat, E, Diociaiuti, A, Dolenc-Voljc, M, Dreyfus, I, El Hachem, M, Fischer, J, Ganemo, A, Gouveia, C, Gruber, R, Hadj-Rabia, S, Hohl, D, Jonca, N, Ezzedine, K, Maier, D, Malhotra, R, Rodriguez, M, Ott, H, Paige, D G, Pietrzak, A, Poot, F, Schmuth, M, Sitek, J C, Steijlen, P, Wehr, G, Moreen, M, Vahlquist, A, Traupe, H & Oji, V 2019, ' Management of congenital ichthyoses : European guidelines of care: Part Two ', British Journal of Dermatology, vol. 180, no. 3, pp. 484-495 . https://doi.org/10.1111/bjd.16882
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.484-495. ⟨10.1111/bjd.16882⟩
Mazereeuw-Hautier, J, Hernandez-Martin, A, O'Toole, E A, Bygum, A, Amaro, C, Aldwin, M, Audouze, A, Bodemer, C, Bourrat, E, Diociaiuti, A, Dolenc-Voljc, M, Dreyfus, I, El Hachem, M, Fischer, J, Ganemo, A, Gouveia, C, Gruber, R, Hadj-Rabia, S, Hohl, D, Jonca, N, Ezzedine, K, Maier, D, Malhotra, R, Rodriguez, M, Ott, H, Paige, D G, Pietrzak, A, Poot, F, Schmuth, M, Sitek, J C, Steijlen, P, Wehr, G, Moreen, M, Vahlquist, A, Traupe, H & Oji, V 2019, ' Management of congenital ichthyoses : European guidelines of care: Part Two ', British Journal of Dermatology, vol. 180, no. 3, pp. 484-495 . https://doi.org/10.1111/bjd.16882
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus