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Clinical Genetics|February 21, 2024
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesCamille Engel, Martin Chevarin, Juliette Piard, et al.Journal of the American Academy of Dermatology|May 15, 2010
Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational studyJuliette Mazereeuw-Hautier, Sophie Bezio, Emmanuel Mahe, et al.European Journal of Medical Genetics|August 18, 2020
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutationNawale Hadouiri, Veronique Darmency, Laurent Guibaud, et al.Acta Dermato-Venereologica|December 17, 2014
Burden of inherited ichthyosis: a French national surveyIsabelle Dreyfus, Céline Pauwels, Emmanuelle Bourrat, et al.Orphanet Journal of Rare Diseases|January 8, 2014
Prevalence of inherited ichthyosis in France: a study using capture-recapture methodIsabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2023
Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)Guillaume Canaud, Juan Carlos Lopez Gutierrez, Alan D Irvine, et al.The Journal of Investigative Dermatology|August 8, 2002
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28Lekbir Baala, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, et al.Journal of the American Academy of Dermatology|January 17, 2015
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stainAnne-Sophie Dutkiewicz, Khaled Ezzedine, Juliette Mazereeuw-Hautier, et al.Medicine|July 19, 2016
Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement: A retrospective study in 112 patientsKévin Bouiller, Sylvain Audia, Hervé Devilliers, et al.European Journal of Medical Genetics|March 24, 2025
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case reportBertille Bonniaud, Maxime Luu, Coline Cormier, et al.Pageof 10