Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Emmanuelle Bourrat"'
Publikováno v:
British Journal of Dermatology. 187:1026-1028
This work reports 30 cases of folliculitis decalvans (FD) in patients with dystrophic epidermolysis bullosa (DEB) among a cohort of 125 DEB patients seen between 2010 and 2021 in 2 French expert centers for the management of inherited epidermolysis b
Autor:
Claire, Barbieux, Mathilde, Bonnet des Claustres, Matthias, Fahrner, Evgeniya, Petrova, Lam C, Tsoi, Olivier, Gouin, Florent, Leturcq, Pascale, Nicaise-Roland, Christine, Bole, Vivien, Béziat, Emmanuelle, Bourrat, Oliver, Schilling, Johann E, Gudjonsson, Alain, Hovnanian
Publikováno v:
The Journal of allergy and clinical immunology. 149(4)
Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in SPINK5 encoding the protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor). NS patients experience severe skin barrier defects, displa
Autor:
J. Küsel, Julien Thevenon, Emmanuelle Bourrat, Steffen Hörer, Rudolf Happle, Lisa Heinz, Pierre Vabres, Svenja Alter, Alrun Hotz, Andreas Zimmer, Judith Fischer
Publikováno v:
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X
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:
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,
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
Autor:
Sébastien Barbarot, Juliette Mazereeuw-Hautier, Bertrand Isidor, Louise Muguet Guenot, Emmanuelle Bourrat, Corinne Collet, Marie Denis Musquer, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique, Hélène Aubert, Annick Toutain
Publikováno v:
Pediatric Dermatology
Pediatric Dermatology, Wiley, 2019, 36 (2), pp.242-246. ⟨10.1111/pde.13748⟩
Pediatric Dermatology, Wiley, 2019, 36 (2), pp.242-246. ⟨10.1111/pde.13748⟩
International audience; Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited
Autor:
María del Carmen Boente, Judith Fischer, Sabine Jägle, Emmanuelle Bourrat, Julia Kopp, Henning Hamm, Peter Kirchmeier, Geoffroy Hickman, Andreas Zimmer, Hazem A. Juratli, Rudolf Happle, Kira Süssmuth
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mut
Autor:
Sylvie Fraitag, Laetitia de Peufeilhoux, Stéphanie Leclerc-Mercier, Nicolas Ortonne, Lisa Weibel, Laetitia Furio, Christine Bodemer, Emmanuelle Bourrat, Alain Hovnanian, Smail Hadj-Rabia, Anne-Claire Bursztejn, Thierry Jo Molina
Publikováno v:
The American Journal of Dermatopathology. 38:83-91
Netherton syndrome (NS) is a severe genetic skin disorder, with often delayed or misleading clinical signs. The histological features of skin biopsies, usually described as a psoriasiform hyperplasia, have only been reported in isolated case reports
Autor:
E. Castela, Christine Chiaverini, Frédéric Bérard, Fanny Morice-Picard, J.-P. Lacour, Didier Bessis, Jean-François Nicolas, Aurore Rozières, Meri K. Tulic, D. Baty, Jean Kanitakis, Pierre Vabres, J. Mazereeuw, Thierry Passeron, Emmanuelle Bourrat
Publikováno v:
British Journal of Dermatology
British Journal of Dermatology, 2018, ⟨10.1111/bjd.16897⟩
British Journal of Dermatology, Wiley, 2018, ⟨10.1111/bjd.16897⟩
British Journal of Dermatology, 2018, ⟨10.1111/bjd.16897⟩
British Journal of Dermatology, Wiley, 2018, ⟨10.1111/bjd.16897⟩
International audience; BACKGROUND: Epidermolysis bullosa simplex generalized severe is a genetic disorder caused by mutation in KRT5 or KRT14 genes. Usually considered as a mechanical disease, recent data argue for additional inflammatory mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa4b8416111f1ae26e37691a61fd677
https://hal.science/hal-01911034
https://hal.science/hal-01911034