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A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa de Oliveira, Ana Sofia Lima Estevao; de Siqueira, Roberta Cardoso; Nait-Meddour, Cecile; Tricarico, Paola Maura; Moura, Ronald; Agrelli, Almerinda; d'Adamo, Adamo Pio; Jamain, Stephane; Crovella, Sergio; Brito, Maria de Fatima Medeiros; Boniotto, Michele; Brandao, Lucas Andre Cavalcanti 分享 收藏
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis Tricarico, Paola Maura; Gratton, Rossella; dos Santos-Silva, Carlos Andre; de Moura, Ronald Rodrigues; Ura, Blendi; Sommella, Eduardo; Campiglia, Pietro; Del Vecchio, Cecilia; Moltrasio, Chiara; Berti, Irene; D'Adamo, Adamo Pio; Elsherbini, Ahmed M. A.; Staudenmaier, Lena; Chersi, Karin; Boniotto, Michele; Krismer, Bernhard; Schittek, Birgit; Crovella, Sergio 分享 收藏
Holistic health record for Hidradenitis suppurativa patients Tricarico, Paola Maura; Moltrasio, Chiara; Gradisek, Anton; Marzano, Angelo, V; Flacher, Vincent; Boufenghour, Wacym; von Stebut, Esther; Schmuth, Matthias; Jaschke, Wolfram; Gams, Matjaz; Boniotto, Michele; Crovella, Sergio 分享 收藏
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation Marzano, Angelo Valerio; Genovese, Giovanni; Moltrasio, Chiara; Tricarico, Paola Maura; Gratton, Rossella; Piaserico, Stefano; Garcovich, Simone; Boniotto, Michele; Brandao, Lucas; Moura, Ronald; Crovella, Sergio 分享 收藏
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Altered keratinization and vitamin D metabolism may be key pathogenetic pathways in syndromic hidradenitis suppurativa: a novel whole exome sequencing approach Brandao, Lucas; Moura, Ronald; Tricarico, Paola Maura; Gratton, Rossella; Genovese, Giovanni; Moltrasio, Chiara; Garcovich, Simone; Boniotto, Michele; Crovella, Sergio; Marzano, Angelo Valerio 分享 收藏
Hair follicle stem cell replication stress drives IFI16/STING-dependent inflammation in hidradenitis suppurativa Orvain, Cindy; Lin, Yea-Lih; Jean-Louis, Francette; Hocini, Hakim; Hersant, Barbara; Bennasser, Yamina; Ortonne, Nicolas; Hotz, Claire; Wolkenstein, Pierre; Boniotto, Michele; Tisserand, Pascaline; Lefebvre, Cecile; Lelievre, Jean-Daniel; Benkirane, Monsef; Pasero, Philippe; Levy, Yves; Hue, Sophie 分享 收藏
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Intrinsic Defect in Keratinocyte Function Leads to Inflammation in Hidradenitis Suppurativa Hotz, Claire; Boniotto, Michele; Guguin, Aurelie; Surenaud, Mathieu; Jean-Louis, Francette; Tisserand, Pascaline; Ortonne, Nicolas; Hersant, Barbara; Bosc, Romain; Poli, Florence; Bonnabau, Henri; Thiebaut, Rodolphe; Godot, Veronique; Wolkenstein, Pierre; Hocini, Hakim; Levy, Yves; Hue, Sophie 分享 收藏
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