Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Anne‐Claire Bursztejn"'
Autor:
Edem Allado, Bruno Chenuel, Aghiles Hamroun, Manon Kientzy, Anne-Claire Bursztejn, Asiya Parvin Allaudeen
Publikováno v:
BMJ Open, Vol 14, Iss 5 (2024)
Introduction Chronic wound care remains a critical public health challenge in terms of prevalence, quality of life and healthcare costs on a global scale. Currently used methods to assess the size and content of wounds include direct contact techniqu
Externí odkaz:
https://doaj.org/article/ad3b6d6f030a40f38b816937e34c2661
Autor:
Sophie Leducq, Agnès Caille, Sébastien Barbarot, Nathalie Bénéton, Didier Bessis, Olivia Boccara, Anne-Claire Bursztejn, Christine Chiaverini, Anne Dompmartin, Catherine Droitcourt, Valérie Gissot, Dominique Goga, Laurent Guibaud, Denis Herbreteau, Anne Le Touze, Christine Léauté-Labrèze, Gérard Lorette, Stéphanie Mallet, Ludovic Martin, Juliette Mazereeuw-Hautier, Alice Phan, Patrice Plantin, Isabelle Quéré, Pierre Vabres, Hélène Bourgoin, Bruno Giraudeau, Annabel Maruani, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Publikováno v:
Trials, Vol 20, Iss 1, Pp 1-11 (2019)
Abstract Background Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and
Externí odkaz:
https://doaj.org/article/c58880da25a140169bb50044eb868b2a
Publikováno v:
JAAD Case Reports, Vol 3, Iss 5, Pp 454-456 (2017)
Externí odkaz:
https://doaj.org/article/e36db137bdb841959f63dcf70e90e614
Autor:
Jean‐Marie Ravel, Margot Comel, Marion Wandzel, Myriam Bronner, Aurélie Tatopoulos, Mathilde Renaud, Laëtitia Lambert, Anne‐Claire Bursztejn, Céline Bonnet
Publikováno v:
American Journal of Medical Genetics Part A. 188:3343-3349
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc70a443b2109dbf2edea2fa827bba21
https://doi.org/10.1002/ajmg.a.62954
https://doi.org/10.1002/ajmg.a.62954
Autor:
Annabel Maruani, Anne-Guillemette Moineau, Olivia Boccara, Juliette Mazereeuw-Hautier, Sophie Leducq, Didier Bessis, Laurent Guibaud, Pierre Vabres, Stephanie Mallet, Sebastien Barbarot, Christine Chiaverini, Catherine Droitcourt, Anne-Claire Bursztejn, Céline Lengelle, Jean-Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aurélien Binet, Baptiste Morel, Hélène Bourgoin, Valérie Gissot, Bruno Giraudeau, Yves Gruel, Elsa Tavernier, Jérôme Rollin
Publikováno v:
British Journal of Dermatology. 188:152-154
Slow-flow vascular malformations (VMs), especially those with venous components, can be complicated by localized intravascular coagulopathy (LIC), responsible for pain and impaired quality of life. Several studies have shown the effectiveness of mTOR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c3f0361da173937a69ac17dde11dcc9
https://doi.org/10.1093/bjd/ljac028
https://doi.org/10.1093/bjd/ljac028
Autor:
Judith Fischer, Adam Majcher, Roger Sandhoff, Elise Brischoux-Boucher, Alexander Enk, Silvia Mihalceanu, Elisabeth Grimm, Knut Schäkel, Anne-Claire Bursztejn, François Aubin, Lukáš Opálka, Lionel Van Maldergem, Robert Pilz
Publikováno v:
Human Molecular Genetics. 31:1105-1114
Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c454b962e71f364c25143a51b4b62fe8
https://doi.org/10.1093/hmg/ddab309
https://doi.org/10.1093/hmg/ddab309
Autor:
A. Borsa-Dorion, Bruno Leheup, Cédric Baumann, Cyril Schweitzer, N. Berlengi, Anne-Claire Bursztejn, Mathilde Moiny-Fouquet, Lucie Lapp, Claire Guillaume, Yohann Bernard, Amandine Luc, Claire Watelet
Publikováno v:
Archives de Pédiatrie. 28:417-421
Background Children with skin disorders usually receive care from a pediatrician, despite their limited training in this discipline. The advice of a dermatologist is frequently requested. Objectives To estimate the degree of concordance in the diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f76566f8bc4bd308e6aa789fa98900
https://doi.org/10.1016/j.arcped.2021.04.010
https://doi.org/10.1016/j.arcped.2021.04.010
Autor:
Marie-Aleth Richard, François Aubin, Nathalie Beneton, Anne Bouloc, Anne-Claire Bursztejn, Vincent Descamps, Denis Jullien
Publikováno v:
Advances in therapy. 39(11)
Despite the existence of multiple assessment scores for psoriasis severity, skin disease with limited skin lesions but significant impairment of quality of life can be difficult to classify, leading to under- or overtreatment. Our objective was to ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b56d21bdb7d1ec7b7bad00673826b83
https://pubmed.ncbi.nlm.nih.gov/36112312
https://pubmed.ncbi.nlm.nih.gov/36112312
Autor:
Dan Lipsker, Marie-Cécile Manière, Jean Muller, Agathe Chammas, Aymeric Courval, Véronique Geoffroy, Elise Schaefer, Salma Adham, Salima El Chehadeh, Clarisse Billon, Sébastien Gaertner, Karelle Bénistan, Corinne Stoetzel, Agnès Bloch-Zupan, Anne-Claire Bursztejn, Anthony Reyre, Laurence Bal, Hélène Dollfus, Anne Legrand, Roland Jaussaud, Tiffany Busa, Xavier Jeunemaitre, Catherine Petit
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (2), pp.206-212. ⟨10.1111/cge.13972⟩
Clinical Genetics, 2021, 100 (2), pp.206-212. ⟨10.1111/cge.13972⟩
Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86bbe0aebb3cdb53c9366255fd136d3d
https://doi.org/10.1111/cge.13972
https://doi.org/10.1111/cge.13972
Autor:
Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5345c27d673ecdfbf963f40fb5a6980
https://doi.org/10.1111/cge.13918
https://doi.org/10.1111/cge.13918