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Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
European Journal of Pediatrics|July 11, 2023
Accurate diagnosis of acute hemorrhagic edema of infancy: a French multicenter observational studySophie Leducq, Annabel Maruani, Christine Bodemer, et al.
Seminars in Arthritis and Rheumatism|September 27, 2021
DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French casesAntoine Fayand, François Chasset, David Boutboul, et al.
Contact Dermatitis|May 30, 2024
Severely compromised supply of patch test allergens in Europe hampers adequate diagnosis of occupational and non-occupational contact allergy. A European Society of Contact Dermatitis (ESCD), European Academy of Allergy and Clinical Immunology (EAACI), European Academy of Dermatology and Venereology (EADV) task forces 'Contact Dermatitis' and 'Occupational Skin Disease' position paperSwen Malte John, Andreas Bonertz, Julia Zimmer, et al.
Familial Cancer|January 22, 2010
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndromePia Vahteristo, Taru A Koski, Laura Näätsaari, et al.
Acta Dermato-Venereologica|November 8, 2017
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPEAnnabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, et al.
Annals of the Rheumatic Diseases|December 15, 2016
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (<i>NLRP1-</i>associated autoinflammation with arthritis and dyskeratosis)Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 22, 2019
The IgG2 Isotype of Anti-Transcription Intermediary Factor 1γ Autoantibodies Is a Biomarker of Cancer and Mortality in Adult DermatomyositisAudrey Aussy, Manuel Fréret, Laure Gallay, et al.
Journal of the American Academy of Dermatology|March 3, 2019
Effectiveness and safety of dupilumab for the treatment of atopic dermatitis in a real-life French multicenter adult cohortSarah Faiz, Jonathan Giovannelli, Céline Podevin, et al.
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