Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
Melki, Isabelle, MD, Rose, Yoann, BSc, Uggenti, Carolina, PhD, Van Eyck, Lien, MD, Frémond, Marie-Louise, MD, Kitabayashi, Naoki, BSc, Rice, Gillian I., PhD, Jenkinson, Emma M., PhD, Boulai, Anaïs, BSc, Jeremiah, Nadia, PhD, Gattorno, Marco, MD, Volpi, Sefano, MD, PhD, Sacco, Olivero, MD, Terheggen-Lagro, Suzanne W.J., MD, Tiddens, Harm A.W.M., MD, PhD, Meyts, Isabelle, MD, PhD, Morren, Marie-Anne, MD, De Haes, Petra, MD, PhD, Wouters, Carine, MD, PhD, Legius, Eric, MD, PhD, Corveleyn, Anniek, PhD, Rieux-Laucat, Frederic, PhD, Bodemer, Christine, MD, PhD, Callebaut, Isabelle, PhD, Rodero, Mathieu P., PhD, Crow, Yanick J., MD, PhD
Published in Journal of allergy and clinical immunology (01.08.2017)
Published in Journal of allergy and clinical immunology (01.08.2017)
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Journal Article
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children
Frémond, Marie-Louise, MD, Rodero, Mathieu Paul, PhD, Jeremiah, Nadia, PhD, Belot, Alexandre, MD, PhD, Jeziorski, Eric, MD, Duffy, Darragh, PhD, Bessis, Didier, MD, Cros, Guilhem, MD, Rice, Gillian I., PhD, Charbit, Bruno, MSc, Hulin, Anne, PharmD, PhD, Khoudour, Nihel, MD, Caballero, Consuelo Modesto, MD, Bodemer, Christine, MD, PhD, Fabre, Monique, MD, Berteloot, Laureline, MD, Le Bourgeois, Muriel, MD, Reix, Philippe, MD, Walzer, Thierry, PhD, Moshous, Despina, MD, PhD, Blanche, Stéphane, MD, PhD, Fischer, Alain, MD, PhD, Bader-Meunier, Brigitte, MD, Rieux-Laucat, Fréderic, PhD, Crow, Yanick Joseph, MD, PhD, Neven, Bénédicte, MD, PhD
Published in Journal of allergy and clinical immunology (01.12.2016)
Published in Journal of allergy and clinical immunology (01.12.2016)
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Journal Article
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma
Published in The New England journal of medicine (18.08.2011)
Published in The New England journal of medicine (18.08.2011)
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Journal Article
The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score
Dufresne, Helene, Maincent, Oriane, Taieb, Charles, Bodemer, Christine, Hadj-Rabia, Smail
Published in Acta dermato-venereologica (30.08.2023)
Published in Acta dermato-venereologica (30.08.2023)
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Journal Article
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa
De Rosa, Laura, Enzo, Elena, Zardi, Giulia, Bodemer, Christine, Magnoni, Cristina, Schneider, Holm, De Luca, Michele
Published in Frontiers in genetics (01.09.2021)
Published in Frontiers in genetics (01.09.2021)
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Journal Article
Full‐thickness central corneal grafts in tectonic lamellar sclerokeratoplasty for malformative, invasive and inflammatory limbal insufficiency treatment
Amatu, Jean‐Baptiste, Wei, Leo Seo, Nathalia, Bellon, Christine, Bodemer, Bremond‐Gignac, Dominique
Published in Acta ophthalmologica (Oxford, England) (01.01.2022)
Published in Acta ophthalmologica (Oxford, England) (01.01.2022)
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Journal Article
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome
Paluel-Marmont, Colombe, MD, Bellon, Nathalia, MD, Barbet, Patrick, MD, PhD, Leclerc-Mercier, Stéphanie, MD, Hadj-Rabia, Smail, MD, PhD, Dupont, Christophe, MD, PhD, Bodemer, Christine, MD, PhD
Published in Journal of allergy and clinical immunology (01.06.2017)
Published in Journal of allergy and clinical immunology (01.06.2017)
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Journal Article
Infantile myofibromatosis: A series of 28 cases
Mashiah, Jacob, MD, MHA, Hadj-Rabia, Smail, MD, PhD, Dompmartin, Anne, MD, PhD, Harroche, Annie, MD, Laloum-Grynberg, Etty, MD, Wolter, Michèle, MD, Amoric, Jean-Claude, MD, Hamel-Teillac, Dominique, MD, Guero, Stéphane, MD, Fraitag, Sylvie, MD, Bodemer, Christine, MD, PhD
Published in Journal of the American Academy of Dermatology (01.08.2014)
Published in Journal of the American Academy of Dermatology (01.08.2014)
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Journal Article
Challenges in Treating Genodermatoses: New Therapies at the Horizon
Morren, Marie-Anne, Legius, Eric, Giuliano, Fabienne, Hadj-Rabia, Smail, Hohl, Daniel, Bodemer, Christine
Published in Frontiers in pharmacology (05.01.2022)
Published in Frontiers in pharmacology (05.01.2022)
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Journal Article
Early management of sight threatening retinopathy in incontinentia pigmenti
Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P
Published in Orphanet journal of rare diseases (27.08.2020)
Published in Orphanet journal of rare diseases (27.08.2020)
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Journal Article
Adjuvant treatment with the bacterial lysate (OM-85) improves management of atopic dermatitis: A randomized study
Bodemer, Christine, Guillet, Gerard, Cambazard, Frederic, Boralevi, Franck, Ballarini, Stefania, Milliet, Christian, Bertuccio, Paola, La Vecchia, Carlo, Bach, Jean-François, de Prost, Yves
Published in PloS one (23.03.2017)
Published in PloS one (23.03.2017)
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Journal Article
Incontinentia pigmenti burden scale: designing a family burden questionnaire
Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine
Published in Orphanet journal of rare diseases (26.11.2019)
Published in Orphanet journal of rare diseases (26.11.2019)
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Journal Article
Stability and Formulation of Erlotinib in Skin Creams
Nguyen, David, Secrétan, Philippe-Henri, Cotteret, Camille, Jacques-Gustave, Emmanuelle, Greco, Céline, Bodemer, Christine, Schlatter, Joel, Cisternino, Salvatore
Published in Molecules (Basel, Switzerland) (05.02.2022)
Published in Molecules (Basel, Switzerland) (05.02.2022)
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Journal Article
Efficacy and Tolerance of Sirolimus (Rapamycin) for Extracranial Arteriovenous Malformations in Children and Adults
Gabeff, Romain, Boccara, Olivia, Soupre, Véronique, Lorette, Gérard, Bodemer, Christine, Herbreteau, Denis, Tavernier, Elsa, Maruani, Annabel
Published in Acta dermato-venereologica (01.11.2019)
Published in Acta dermato-venereologica (01.11.2019)
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Journal Article
Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review
Nouwen, Anouk E M, Schappin, Renske, Nguyen, N Tan, Ragamin, Aviël, Bygum, Anette, Bodemer, Christine, Dalm, Virgil A S H, Pasmans, Suzanne G M A
Published in Frontiers in immunology (30.03.2022)
Published in Frontiers in immunology (30.03.2022)
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Journal Article
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases
Mellerio, Jemima E, El Hachem, Maya, Bellon, Nathalia, Zambruno, Giovanna, Buckova, Hana, Autrata, Rudolf, Salavastru, Carmen, Caldaro, Tamara, Greco, Celine, Has, Cristina, Bodemer, Christine
Published in Orphanet journal of rare diseases (06.06.2020)
Published in Orphanet journal of rare diseases (06.06.2020)
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Journal Article
Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)
Ingen-Housz-Oro, Saskia, Duong, Tu-Anh, Bensaid, Benoit, Bellon, Nathalia, de Prost, Nicolas, Lu, Dévy, Lebrun-Vignes, Bénédicte, Gueudry, Julie, Bequignon, Emilie, Zaghbib, Karim, Royer, Gérard, Colin, Audrey, Do-Pham, Giao, Bodemer, Christine, Ortonne, Nicolas, Barbaud, Annick, Fardet, Laurence, Chosidow, Olivier, Wolkenstein, Pierre
Published in Orphanet journal of rare diseases (10.04.2018)
Published in Orphanet journal of rare diseases (10.04.2018)
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Journal Article
Mast cell sarcoma: new cases and literature review
Monnier, Jilliana, Georgin-Lavialle, Sophie, Canioni, Danielle, Lhermitte, Ludovic, Soussan, Michael, Arock, Michel, Bruneau, Julie, Dubreuil, Patrice, Bodemer, Christine, Chandesris, Marie-Olivia, Lortholary, Olivier, Hermine, Olivier, Damaj, Gandhi
Published in Oncotarget (04.10.2016)
Published in Oncotarget (04.10.2016)
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