Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Emmanuelle Bourrat"'
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
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:
Julia Kopp, Peter C. van den Akker, Matthias Schmuth, Zhou Yang, Angela Hernández-Martín, Bakar Bouadjar, Anette Bygum, Katariina Hannula-Jouppi, Maria C. Bolling, Svenja Alter, Iliana Tantcheva-Poor, Emmanuelle Bourrat, Anders Vahlquist, Juliette Mazereeuw-Hautier, Andreas Zimmer, Kathrin A. Giehl, Regina C. Betz, Gianluca Tadini, Sophie Guez, Alrun Hotz, Robert Gruber, Maritta Hellström Pigg, Cristina Has, Judith Fischer, Michela Brena, Katalin Komlosi, Vinzenz Oji, Natalie Jonca, A.D. Irvine, Kira Süßmuth, Giovanna Zambruno
Publikováno v:
Genes
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been iden
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
Autor:
Gilles Kauffenstein, Ludovic Martin, Loukman Omarjee, Nastassia Navasiolava, Emmanuelle Bourrat, Frank Rutsch, M. D. Vignon, Shana Verschuere, Olivier Vanakker, Yvonne Nitschke, Georges Leftheriotis
Publikováno v:
BRITISH JOURNAL OF DERMATOLOGY
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2020, 183 (2), pp.367-372. ⟨10.1111/bjd.18632⟩
British Journal of Dermatology, 2020, 183 (2), pp.367-372. ⟨10.1111/bjd.18632⟩
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2020, 183 (2), pp.367-372. ⟨10.1111/bjd.18632⟩
British Journal of Dermatology, 2020, 183 (2), pp.367-372. ⟨10.1111/bjd.18632⟩
International audience; Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6296138315fbf57c29d8228880a9b58a
https://biblio.ugent.be/publication/8632971
https://biblio.ugent.be/publication/8632971
Autor:
Ingrid Hausser, Svenja Alter, Alrun Hotz, Lisanne Hake, Hagen Ott, Vinzenz Oji, Mouna Korbi, Judith Fischer, Emmanuelle Bourrat, Andreas Zimmer, J. Küsel
Publikováno v:
Human Mutation. 39:1305-1313
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B,