First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C
Ravel, Jean‐Marie, Comel, Margot, Wandzel, Marion, Bronner, Myriam, Tatopoulos, Aurélie, Renaud, Mathilde, Lambert, Laëtitia, Bursztejn, Anne‐Claire, Bonnet, Céline
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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Disseminated indolent ALK‐positive primary cutaneous anaplastic large cell lymphoma (C‐ALCL) lasting for 10 years
Barbé, Jordane, Escobar, Gabriela, Marzouki‐Zerouali, Ambre, Lardenois, Emilie, Schmutz, Jean‐Luc, Bursztejn, Anne‐Claire
Published in International journal of dermatology (01.04.2021)
Published in International journal of dermatology (01.04.2021)
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Effectiveness of biologic therapies in children with palmoplantar plaque psoriasis: An analysis of real-life data from the BiPe cohorts
Hanafi, Bochra, Beauchet, Alain, Di Lernia, Vito, Lasek, Audrey, Severino-Freire, Maëlla, Barbarot, Sébastien, Hadj-Rabia, Smail, Phan, Alice, Bursztejn, Anne-Claire, Maruani, Annabel, Chaby, Guillaume, Quiles-Tsimaratos, Nathalie, Phan, Céline, Zitouni, Jinane, Mazereeuw-Hautier, Juliette, Mahé, Emmanuel
Published in Pediatric dermatology (01.09.2023)
Published in Pediatric dermatology (01.09.2023)
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Journal Article
CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma
Marin-Esteban, Viviana, Molet, Lucie, Laganà, Marta, Ciocan, Dragos, Dominguez-Lafage, Clément, Alouche, Nagham, Nguyen, Julie, Gallego, Carmen, Mercier-Nomé, Françoise, Jaracz-Ros, Agnieszka, Beaupain, Blandine, Bouligand, Jérôme, Proust, Alexis, Habib, Christophe, Bonnin, Rémy A., Girlich, Delphine, Fouyssac, Fanny, Schmutz, Jean-Luc, Bursztejn, Anne-Claire, Bellanné-Chantelot, Christine, Bourrat, Emmanuelle, Herfs, Michael, Espéli, Marion, Balabanian, Karl, Schlecht-Louf, Géraldine, Donadieu, Jean, Bachelerie, Françoise, Deback, Claire
Published in The New England journal of medicine (11.04.2024)
Published in The New England journal of medicine (11.04.2024)
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Garde, Aurore, Guibaud, Laurent, Goldenberg, Alice, Petit, Florence, Dard, Rodolphe, Roume, Joelle, Mazereeuw‐Hautier, Juliette, Chassaing, Nicolas, Lacombe, Didier, Morice‐Picard, Fanny, Toutain, Annick, Arpin, Stéphanie, Boccara, Olivia, Touraine, Renaud, Blanchet, Patricia, Coubes, Christine, Willems, Marjolaine, Pinson, Lucile, Van Kien, Philippe Khau, Chiaverini, Christine, Giuliano, Fabienne, Alessandri, Jean‐Luc, Mathieu‐Dramard, Michèle, Morin, Gilles, Bursztejn, Anne‐Claire, Mignot, Cyril, Doummar, Diane, Di Rocco, Frederico, Cornaton, Jenny, Nicolas, Claire, Gautier, Elodie, Luu, Maxime, Bardou, Marc, Sorlin, Arthur, Philippe, Christophe, Edery, Patrick, Rossi, Massimiliano, Carmignac, Virginie, Thauvin‐Robinet, Christel, Vabres, Pierre, Faivre, Laurence
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
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Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype
El Chehadeh, Salima, Legrand, Anne, Stoetzel, Corinne, Geoffroy, Véronique, Billon, Clarisse, Adham, Salma, Jeunemaître, Xavier, Jaussaud, Roland, Muller, Jean, Schaefer, Elise, Benistan, Karelle, Gaertner, Sébastien, Bloch‐Zupan, Agnès, Courval, Aymeric, Manière, Marie‐Cécile, Petit, Catherine, Bursztejn, Anne‐Claire, Bal, Laurence, Reyre, Anthony, Chammas, Agathe, Busa, Tiffany, Dollfus, Hélène, Lipsker, Dan
Published in Clinical genetics (01.08.2021)
Published in Clinical genetics (01.08.2021)
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Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients
Bessis, Didier, Bursztejn, Anne-Claire, Morice-Picard, Fanny, Capri, Yline, Barbarot, Sébastien, Aubert, Hélène, Bodet, Damien, Bourrat, Emmanuelle, Chiaverini, Christine, Poujade, Laura, Willems, Marjolaine, Rouanet, Jacques, Dompmartin-Blanchère, Anne, Geneviève, David, Gerard, Marion, Ginglinger, Emmanuelle, Hadj-Rabia, Smaïl, Martin, Ludovic, Mazereeuw-Hautier, Juliette, Bibas, Nathalie, Molinari, Nicolas, Herman, Fanchon, Phan, Alice, Rod, Julien, Roger, Hugues, Sigaudy, Sabine, Ziegler, Alban, Vial, Yoann, Verloes, Alain, Cavé, Hélène, Lacombe, Didier
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2024)
Published in Journal of the European Academy of Dermatology and Venereology (01.09.2024)
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Switching biologics in children with psoriasis: Results from the BiPe cohort
Phan, Céline, Beauchet, Alain, Reguiai, Ziad, Severino‐Freire, Maëlla, Mazereeuw‐Hautier, Juliette, Bursztejn, Anne‐Claire, Barbarot, Sébastien, Hadj‐Rabia, Smaïl, Girard, Céline, Phan, Alice, Lacour, Jean‐Philippe, Lasek, Audrey, Abasq, Claire, Brenaut, Emilie, Perrussel, Marc, Droitcourt, Catherine, Mallet, Stéphanie, Piram, Maryam, Fougerousse, Anne‐Claire, Barthélémy, Hugues, Balguérie, Xavier, Mahé, Emmanuel
Published in Pediatric dermatology (01.01.2022)
Published in Pediatric dermatology (01.01.2022)
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Nail Psoriasis: A Systematic Evaluation in 313 Children with Psoriasis
Pourchot, Diane, Bodemer, Christine, Phan, Alice, Bursztejn, Anne‐Claire, Hadj‐Rabia, Smaïl, Boralevi, Franck, Miquel, Juliette, Hubiche, Thomas, Puzenat, Eve, Souillet, Anne‐Laure, Kupfer, Ingrid, Piram, Maryam, Beauchet, Alain, Mahé, Emmanuel
Published in Pediatric dermatology (01.01.2017)
Published in Pediatric dermatology (01.01.2017)
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Childhood chronic prurigo: Interest in patch tests and delayed-reading skin prick tests to environmental allergens
Maridet, Claire, Perromat, Martin, Miquel, Juliette, Chiaverini, Christine, Bessis, Didier, Lasek, Audrey, Piram, Maryam, Bursztejn, Anne-Claire, Abasq, Claire, Phan, Alice, Martin, Ludovic, Bréchat, Bérénice, Chong, Jin Ho, Seneschal, Julien, Taïeb, Alain, Boralevi, Franck
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
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Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial
Leducq, Sophie, Caille, Agnès, Barbarot, Sébastien, Bénéton, Nathalie, Bessis, Didier, Boccara, Olivia, Bursztejn, Anne-Claire, Chiaverini, Christine, Dompmartin, Anne, Droitcourt, Catherine, Gissot, Valérie, Goga, Dominique, Guibaud, Laurent, Herbreteau, Denis, Le Touze, Anne, Léauté-Labrèze, Christine, Lorette, Gérard, Mallet, Stéphanie, Martin, Ludovic, Mazereeuw-Hautier, Juliette, Phan, Alice, Plantin, Patrice, Quéré, Isabelle, Vabres, Pierre, Bourgoin, Hélène, Giraudeau, Bruno, Maruani, Annabel
Published in Current controlled trials in cardiovascular medicine (17.12.2019)
Published in Current controlled trials in cardiovascular medicine (17.12.2019)
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Aortitis: A new feature of Schnitzler syndrome
Bursztejn, Anne-Claire, Imperiale, Alessio, Lipsker, Dan
Published in JAAD Case Reports (01.09.2017)
Published in JAAD Case Reports (01.09.2017)
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Journal Article
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial
Maruani, Annabel, Tavernier, Elsa, Boccara, Olivia, Mazereeuw-Hautier, Juliette, Leducq, Sophie, Bessis, Didier, Guibaud, Laurent, Vabres, Pierre, Carmignac, Virginie, Mallet, Stéphanie, Barbarot, Sébastien, Chiaverini, Christine, Droitcourt, Catherine, Bursztejn, Anne-Claire, Lengellé, Céline, Woillard, Jean-Baptiste, Herbreteau, Denis, Le Touze, Anne, Joly, Aline, Léauté-Labrèze, Christine, Powell, Julie, Bourgoin, Hélène, Gissot, Valérie, Giraudeau, Bruno, Morel, Baptiste
Published in JAMA dermatology (Chicago, Ill.) (01.11.2021)
Published in JAMA dermatology (Chicago, Ill.) (01.11.2021)
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Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients
Pilz, Robert, Opálka, Lukáš, Majcher, Adam, Grimm, Elisabeth, Van Maldergem, Lionel, Mihalceanu, Silvia, Schäkel, Knut, Enk, Alexander, Aubin, François, Bursztejn, Anne-Claire, Brischoux-Boucher, Elise, Fischer, Judith, Sandhoff, Roger
Published in Human molecular genetics (31.03.2022)
Published in Human molecular genetics (31.03.2022)
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