Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Emmanuelle Bourrat"'
Autor:
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Publikováno v:
Genes, Vol 15, Iss 3, p 288 (2024)
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins
Externí odkaz:
https://doaj.org/article/32abf182bde7493b8bec5527b0cab407
Autor:
Oussama Mouri, Cléa Melenotte, Romain Guéry, Camille Cotteret, Arnaud Schweitzer-Chaput, Alice Perignon, Marc Thellier, Emmanuelle Bourrat, Florentia Kaguelidou, Jean Yves Siriez, Denis Malvy, Jean-Pierre Gangneux, Alexandre Duvignaud, Christophe Ravel, Salvatore Cisternino, Janet Ransom, Eric Caumes, Olivier Lortholary, Max Grogl, Pierre Buffet
Publikováno v:
PLoS Neglected Tropical Diseases, Vol 17, Iss 8, p e0011492 (2023)
BackgroundIn endemic foci, the use of an aquaphilic cream containing paromomycin with/without gentamicin to treat cutaneous leishmaniasis (CL) is safe, painless and cures 78-82% of patients with New and Old World CL. Self-application in travelers req
Externí odkaz:
https://doaj.org/article/088c64dac03348fc8fad665a2632743c
Autor:
Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-39 (2022)
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40
Externí odkaz:
https://doaj.org/article/47d7e0d1bd19414b82a3ff48728cebb1
Autor:
Chloé Grolleau, MD, MSc, Emmanuelle Bourrat, MD, Geoffroy Hickman, MD, Martine Bagot, MD, PhD, Antoine Petit, MD, Laure Frumholtz, MD, MSc, Charles Cassius, MD, MSc
Publikováno v:
JAAD Case Reports, Vol 23, Iss , Pp 155-157 (2022)
Externí odkaz:
https://doaj.org/article/081518312aef47088390bd096ad45630
Autor:
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
Publikováno v:
Genes, Vol 14, Iss 3, p 717 (2023)
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and har
Externí odkaz:
https://doaj.org/article/f447f98bf0bc44a593111f3151868cf5
Autor:
Dimitra Kiritsi, Kathrin Dieter, Elke Niebergall-Roth, Silvia Fluhr, Cristina Daniele, Jasmina Esterlechner, Samar Sadeghi, Seda Ballikaya, Leoni Erdinger, Franziska Schauer, Stella Gewert, Martin Laimer, Johann W. Bauer, Alain Hovnanian, Giovanna Zambruno, May El Hachem, Emmanuelle Bourrat, Maria Papanikolaou, Gabriela Petrof, Sophie Kitzmüller, Christen L. Ebens, Markus H. Frank, Natasha Y. Frank, Christoph Ganss, Anna E. Martinez, John A. McGrath, Jakub Tolar, Mark A. Kluth
Publikováno v:
JCI Insight, Vol 6, Iss 22 (2021)
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exists. ABCB5+
Externí odkaz:
https://doaj.org/article/b73355f8e6714783859f9acfbd51109d
Autor:
Juliette Mazereeuw-Hautier, Emmanuelle Bourrat, Emilie Tournier, Maxime Battistella, José Bernabeu-Wittel, Sébastien Barbarot, Ángela Hernández-Martín
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 3, p adv00408 (2021)
Externí odkaz:
https://doaj.org/article/4022f3f3e831407dac07de3f59215b72
Autor:
Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
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
Externí odkaz:
https://doaj.org/article/7843cc696fa34a0188ba01e7d7276cf7
Autor:
Juliette Hardy, Franck Boralevi, Stéphanie Mallet, Natalia Cabrera, Alexandre Belot, Alice Phan, Sébastien Barbarot, Audrey Duriez-Lasek, Christine Chiaverini, Thomas Hubiche, Emmanuel Mahé, Edouard Bégon, Emmanuelle Bourrat, Olivia Boccara, Hélène Aubert, Martine Grall Lerosey, Catherine Droitcourt, Maryam Piram, Juliette Mazereeuw-Hautier, Research Group of the French Society of Paediatric Dermatology (SDFP in French)
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 6, Pp 539-543 (2019)
Methotrexate has demonstrated its efficiency for the treatment of juvenile localized scleroderma but some patients may be resistant. The aim of our study was to define the profile of such patients. We performed an observational retrospective multicen
Externí odkaz:
https://doaj.org/article/a721ab9411b24b59af07988126754398
Autor:
Maleha S. Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 13, p adv00173 (2020)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/b7731243497c44a5b0079af2b122c067