Not logged in A Cross-sectional Study on Quality of Life in EB: Validation of the Italian QOLEB and Assessment in Italian Patients Zambruno, Giovanna; Samela, Tonia; Diociaiuti, Andrea; Salamon, Gudrun; Strobl, Sophie; Pilo, Cinzia; Abeni, Damiano; Linertova, Renata; Murrell, Dedee F.; El Hachem, May Share Save
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Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline El Hachem, May; Caldaro, Tamara; Lara-Corrales, Irene; Pope, Elena; Jones, Rosie; Bageta, Maria L.; Heaton, Jennifer; Martinez, Anna E.; Ferreira da Rocha, Anna Carolina; Bodemer, Christine; Russo, Claudia; Tagkalidis, Peter; Brains, Lisa M.; Mcguirk, Simon P.; Diamantopoulos, Athanasios; Feinstein, James A.; Zambruno, Giovanna; Mayre-Chilton, Kattya; De Angelis, Paola Share Save
Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus El Hachem, May; Diociaiuti, Andrea; Bonamonte, Domenico; Brena, Michela; Lospalluti, Lucia; Magnoni, Cristina; Neri, Iria; Peris, Ketty; Tadini, Gianluca; Zambruno, Giovanna; Bevilacqua, Francesca; Caldaro, Tamara; De Rose, Domenico; Depenni, Roberta; Di Stefani, Alessandro; Diamanti, Antonella; Femino, Raimondo; Fiorentini, Chiara; Gabusi, Andrea; Galeotti, Angela; Gelmetti, Alessandra; Giavoli, Claudia; Giudice, Giuseppe; Guez, Sophie; Laforgia, Nicola; Lando, Mario; Laterza, Claudia; Lucaccioni, Laura; Massella, Laura; Palumbo, Giuseppe; Parolo, Chiara; Pugliese, Marisa; Reali, Simone; Salera, Simona; Taurisano, Paolo; Tucci, Marco; Ubertini, Graziamaria; Vimercati, Antonella; Volante, Veronica; Zazza, Marco; Delphi Study Group Share Save
Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Bullosa Condorelli, Angelo Giuseppe; Nobili, Rebecca; Muglia, Anita; Scarpelli, Giorgia; Marzuolo, Elisa; De Stefanis, Cristiano; Rota, Rossella; Diociaiuti, Andrea; Alaggio, Rita; Castiglia, Daniele; Odorisio, Teresa; El Hachem, May; Zambruno, Giovanna Share Save
Quality of Life in Epidermolysis Bullosa and Epidermolysis Bullosa Burden of Disease: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires El Hachem, May; Diociaiuti, Andrea; Zambruno, Giovanna; Samela, Tonia; Ferretti, Francesca; Carnevale, Claudia; Linertova, Renata; Bodemer, Christine; Murrell, Dedee F.; Abeni, Damiano Share Save
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients Diociaiuti, Andrea; Corbeddu, Marialuisa; Rossi, Sabrina; Pisaneschi, Elisa; Cesario, Claudia; Condorelli, Angelo Giuseppe; Samela, Tonia; Giancristoforo, Simona; Angioni, Adriano; Zambruno, Giovanna; Novelli, Antonio; Alaggio, Rita; Abeni, Damiano; El Hachem, May Share Save
S2k guidelines on diagnosis and treatment of linear IgA dermatosis initiated by the European Academy of Dermatology and Venereology Caux, Frederic; Patsatsi, Aikaterini; Karakioulaki, Meropi; Antiga, Emiliano; Baselga, Eulalia; Borradori, Luca; Caproni, Marzia; Cardones, Adela R.; Chandran, Nisha Suyien; Draeger, Soeren; Drenovska, Kossara; Goebeler, Matthias; Guenther, Claudia; Hofmann, Silke C.; Ioannides, Dimitrios; Joly, Pascal; Marinovic, Branka; Mariotti, Elena Biancamaria; Marzano, Angelo Valerio; Morel, Kimberly D.; Murrell, Dedee F.; Prost, Catherine; Sardy, Miklos; Setterfield, Jane; Skiljevic, Dusan; Uzun, Soner; Vassileva, Snejina; Zambruno, Giovanna; Schmidt, Enno Share Save
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S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV) (vol 37, pg 1118, 2023) Antiga, Emiliano; Bech, Rikke; Maglie, Roberto; Genovese, Giovanni; Borradori, Luca; Bockle, Barbara; Caproni, Marzia; Caux, Frederic; Chandran, Nisha Suyien; Corra, Alberto; D'Amore, Francesco; Daneshpazhooh, Maryam; De, Dipankar; Didona, Dario; Dmochowski, Marian; Drenovska, Kossara; Ehrchen, Jan; Feliciani, Claudio; Goebeler, Matthias; Groves, Richard; Guenther, Claudia; Handa, Sanjeev; Hofmann, Silke C.; Horvath, Barbara; Ioannidis, Dimitrios; Jedlickova, Hana; Kowalewski, Cezary; Kridin, Khalaf; Joly, Pascal; Lim, Yen Loo; Marinovic, Branka; Maverakis, Emanual; Meijer, Joost; Patsatsi, Aikaterini; Pincelli, Carlo; Prost, Catherine; Setterfield, Jane; Sprecher, Eli; Skiljevic, Dusan; Tasanen, Kaisa; Uzun, Soner; Van Beek, Nina; Vassileva, Snejina; Vorobyev, Artem; Vujic, Igor; Wang, Gang; Wang, Mingyue; Wozniak, Katarzyna; Yayli, Savas; Zambruno, Giovanna; Hashimoto, Takashi; Schmidt, Enno; Mascaro, Jose Manuel; Marzano, Angelo Valerio Share Save
SARS-CoV-2 infection of thymus induces loss of function that correlates with disease severity Rosichini, Marco; Bordoni, Veronica; Silvestris, Domenico Alessandro; Mariotti, Davide; Matusali, Giulia; Cardinale, Antonella; Zambruno, Giovanna; Condorelli, Angelo Giuseppe; Flamini, Sara; Genah, Shirley; Catanoso, Marialuigia; Del Nonno, Franca; Trezzi, Matteo; Galletti, Lorenzo; De Stefanis, Cristiano; Cicolani, Nicolo; Petrini, Stefania; Quintarelli, Concetta; Agrati, Chiara; Locatelli, Franco; Velardi, Enrico Share Save
S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV) Antiga, Emiliano; Bech, Rikke; Maglie, Roberto; Genovese, Giovanni; Borradori, Luca; Bockle, Barbara; Caproni, Marzia; Caux, Frederic; Chandran, Nisha Suyien; Corra, Alberto; D'Amore, Francesco; Daneshpazhooh, Maryam; De, Dipankar; Didona, Dario; Dmochowski, Marian; Drenovska, Kossara; Ehrchen, Jan; Feliciani, Claudio; Goebeler, Matthias; Groves, Richard; Guenther, Claudia; Handa, Sanjeev; Hofmann, Silke C.; Horvath, Barbara; Ioannidis, Dimitrios; Jedlickova, Hana; Kowalewski, Cezary; Kridin, Khalaf; Joly, Pascal; Lim, Yen Loo; Marinovic, Branka; Maverakis, Emanual; Meijer, Joost; Patsatsi, Aikaterini; Pincelli, Carlo; Prost, Catherine; Setterfield, Jane; Sprecher, Eli; Skiljevic, Dusan; Tasanen, Kaisa; Uzun, Soner; Van Beek, Nina; Vassileva, Snejina; Vorobyev, Artem; Vujic, Igor; Wang, Gang; Wang, Mingyue; Wozniak, Katarzyna; Yayli, Savas; Zambruno, Giovanna; Hashimoto, Takashi; Schmidt, Enno; Mascaro Jr, Jose Manuel; Marzano, Angelo Valerio Share Save
Updated S2 K guidelines for the management of bullous pemphigoid initiated by the European Academy of Dermatology and Venereology (EADV) Borradori, L.; Van Beek, N.; Feliciani, C.; Tedbirt, B.; Antiga, E.; Bergman, R.; Boeckle, B. C.; Caproni, M.; Caux, F.; Chandran, N. S.; Cianchini, G.; Daneshpazhooh, M.; De, D.; Didona, D.; Di Zenzo, G. M.; Dmochowski, M.; Drenovska, K.; Ehrchen, J.; Goebeler, M.; Groves, R.; Guenther, C.; Horvath, B.; Hertl, M.; Hofmann, S.; Ioannides, D.; Itzlinger-Monshi, B.; Jedlickova, J.; Kowalewski, C.; Kridin, K.; Lim, Y. L.; Marinovic, B.; Marzano, A.; Mascaro, J. -M.; Meijer, J. M.; Murrell, D.; Patsatsi, K.; Pincelli, C.; Prost, C.; Rappersberger, K.; Sardy, M.; Setterfield, J.; Shahid, M.; Sprecher, E.; Tasanen, K.; Uzun, S.; Vassileva, S.; Vestergaard, K.; Vorobyev, A.; Vujic, I.; Wang, G.; Wozniak, K.; Yayli, S.; Zambruno, G.; Zillikens, D.; Schmidt, E.; Joly, P. Share Save
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study Diociaiuti, Andrea; Rotunno, Roberta; Pisaneschi, Elisa; Cesario, Claudia; Carnevale, Claudia; Condorelli, Angelo Giuseppe; Rollo, Massimo; Di Cecca, Stefano; Quintarelli, Concetta; Novelli, Antonio; Zambruno, Giovanna; El Hachem, May Share Save
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Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe Share Save
Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa Kiritsi, Dimitra; Dieter, Kathrin; Niebergall-Roth, Elke; Fluhr, Silvia; Daniele, Cristina; Esterlechner, Jasmina; Sadeghi, Samar; Ballikaya, Seda; Erdinger, Leoni; Schauer, Franziska; Gewert, Stella; Laimer, Martin; Bauer, Johann W.; Hovnanian, Alain; Zambruno, Giovanna; El Hachem, May; Bourrat, Emmanuelle; Papanikolaou, Maria; Petrof, Gabriela; Kitzmuller, Sophie; Ebens, Christen L.; Frank, Markus H.; Frank, Natasha Y.; Ganss, Christoph; Martinez, Anna E.; McGrath, John A.; Tolar, Jakub; Kluth, Mark A. Share Save
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy Logli, Elena; Marzuolo, Elisa; D'Agostino, Marco; Conti, Libenzio Adrian; Lena, Anna Maria; Diociaiuti, Andrea; Dellambra, Elena; Has, Cristina; Cianfanelli, Valentina; Zambruno, Giovanna; El Hachem, May; Magenta, Alessandra; Candi, Eleonora; Condorelli, Angelo Giuseppe Share Save
A multicenter study on quality of life of the greater patient in congenital ichthyoses Abeni, Damiano; Rotunno, Roberta; Diociaiuti, Andrea; Giancristoforo, Simona; Bonamonte, Domenico; Schepis, Carmelo; Neri, Iria; Castiglia, Daniele; Zambruno, Giovanna; El Hachem, May Share Save
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