Intellectual Disability: When the Hypertrichosis Is a Clue

di Pezzani, Lidia, Milani, Donatella, Tadini, Gianluca
Pubblicato in J Pediatr Genet (2015)

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa

di Tadini, Gianluca, Pezzani, Lidia, Ghirardello, Stefano, Rebulla, Paolo, Esposito, Susanna, Mosca, Fabio
Pubblicato in BMJ Case Rep (2015)

Chapter Patient-generated evidence in Epidermolysis Bullosa (EB): Development of a questionnaire to assess the Quality of Life

di Pilo, Cinzia, Benedan, Laura, El Hachem, May, Galeone, Carlotta, Mariani, Paolo, Tadini, Gianluca
Pubblicato in Proceedings e report (2021)

Chapter Patient-generated evidence in Epidermolysis Bullosa (EB): Development of a questionnaire to assess the Quality of Life

di Pilo, Cinzia, Benedan, Laura, El Hachem, May, Galeone, Carlotta, Mariani, Paolo, Tadini, Gianluca
Pubblicato in Proceedings e report (2021)

A Second Case of Gobello Nevus Syndrome

di Tadini, Gianluca, Rossi, Luisa Carlotta, Faure, Elisa, Besagni, Francesca, Boneschi, Vinicio, Esposito, Susanna, Brena, Michela
Pubblicato in Case Rep Dermatol (2016)

Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa

di Tadini, Gianluca, Guez, Sophie, Pezzani, Lidia, Marconi, Maurizio, Greppi, Noemi, Manzoni, Francesca, Rebulla, Paolo, Esposito, Susanna
Pubblicato in Blood Transfus (2015)

Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa

di Esposito, Susanna, Guez, Sophie, Orenti, Annalisa, Tadini, Gianluca, Scuvera, Giulietta, Corti, Laura, Scala, Alessia, Biganzoli, Elia, Berti, Emilio, Principi, Nicola
Pubblicato in Int J Mol Sci (2016)

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

di Easton, Jennifer A, Donnelly, Steven, Kamps, Miriam A F, Steijlen, Peter M, Martin, Patricia E, Tadini, Gianluca, Janssens, René, Happle, Rudolf, van Geel, Michel, van Steensel, Maurice A M
Pubblicazione 2012

Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling

di Errico, Andrea, Stocco, Anna, Riccardi, Vincent M., Gambalunga, Alberto, Bassetto, Franco, Grigatti, Martina, Ferlosio, Amedeo, Tadini, Gianluca, Garozzo, Debora, Ferraresi, Stefano, Trevisan, Andrea, Giustini, Sandra, Rasola, Andrea, Chiara, Federica
Pubblicato in Cancers (Basel) (2021)

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

di Dahlqvist, Johanna, Klar, Joakim, Tiwari, Neha, Schuster, Jens, Törmä, Hans, Badhai, Jitendra, Pujol, Ramon, van Steensel, Maurice A.M., Brinkhuizen, Tjinta, Gijezen, Lieke, Chaves, Antonio, Tadini, Gianluca, Vahlquist, Anders, Dahl, Niklas
Pubblicazione 2010

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

di Dahlqvist, Johanna, Klar, Joakim, Tiwari, Neha, Schuster, Jens, Törmä, Hans, Badhai, Jitendra, Pujol, Ramon, van Steensel, Maurice A.M., Brinkhuizen, Tjinta, Gijezen, Lieke, Chaves, Antonio, Tadini, Gianluca, Vahlquist, Anders, Dahl, Niklas
Pubblicazione 2010

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

di Guerrero-Aspizua, Sara, Conti, Claudio J., Escamez, Maria Jose, Castiglia, Daniele, Zambruno, Giovanna, Youssefian, Leila, Vahidnezhad, Hassan, Requena, Luis, Itin, Peter, Tadini, Gianluca, Yordanova, Ivelina, Martin, Ludovic, Uitto, Jouni, Has, Cristina, Del Rio, Marcela
Pubblicato in Orphanet J Rare Dis (2019)

Ectodermal Dysplasias: Classification and Organization by Phenotype, Genotype and Molecular Pathway

di Timothy, Wright, Fete, Mary, Schneider, Holm, Zinser, Madeline, Koster, Maranke I., Clarke, Angus J., Rabia, Smail Hadj, Tadini, Gianluca, Pagnan, Nina, Visinoni, Atila Fernando, Bergendal, Birgitta, Abbott, Becky, Fete, Timothy, Stanford, Clark, Butcher, Clayton, Souza, Rena D’, Sybert, Virginia
Pubblicato in Am J Med Genet A (2019)

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

di Ferone, Giustina, Thomason, Helen A, Antonini, Dario, De Rosa, Laura, Hu, Bing, Gemei, Marica, Zhou, Huiqing, Ambrosio, Raffaele, Rice, David P, Acampora, Dario, van Bokhoven, Hans, Del Vecchio, Luigi, Koster, Maranke I, Tadini, Gianluca, Spencer-Dene, Bradley, Dixon, Michael, Dixon, Jill, Missero, Caterina
Pubblicazione 2012

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

di El Hachem, May, Zambruno, Giovanna, Bourdon-Lanoy, Eva, Ciasulli, Annalisa, Buisson, Christiane, Hadj-Rabia, Smail, Diociaiuti, Andrea, Gouveia, Carolina F, Hernández-Martín, Angela, de Lucas Laguna, Raul, Dolenc-Voljč, Mateja, Tadini, Gianluca, Salvatori, Guglielmo, De Ranieri, Cristiana, Leclerc-Mercier, Stephanie, Bodemer, Christine
Pubblicazione 2014

DNA polymerase-α regulates type I interferon activation through cytosolic RNA:DNA synthesis

di Starokadomskyy, Petro, Gemelli, Terry, Rios, Jonathan J., Xing, Chao, Wang, Richard C., Li, Haiying, Pokatayev, Vladislav, Dozmorov, Igor, Khan, Shaheen, Miyata, Naoteru, Fraile, Guadalupe, Raj, Prithvi, Xu, Zhe, Xu, Zigang, Ma, Lin, Lin, Zhimiao, Wang, Huijun, Yang, Yong, Ben-Amitai, Dan, Orenstein, Naama, Mussaffi, Huda, Baselga, Eulalia, Tadini, Gianluca, Grunebaum, Eyal, Sarajlija, Adrijan, Krzewski, Konrad, Wakeland, Edward K., Yan, Nan, de la Morena, Maria Teresa, Zinn, Andrew R., Burstein, Ezra
Pubblicato in Nat Immunol (2016)

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

di Kelsell, David P., Norgett, Elizabeth E., Unsworth, Harriet, Teh, Muy-Teck, Cullup, Thomas, Mein, Charles A., Dopping-Hepenstal, Patricia J., Dale, Beverly A., Tadini, Gianluca, Fleckman, Philip, Stephens, Karen G., Sybert, Virginia P., Mallory, Susan B., North, Bernard V., Witt, David R., Sprecher, Eli, E. M. Taylor, Aileen, Ilchyshyn, Andrew, Kennedy, Cameron T., Goodyear, Helen, Moss, Celia, Paige, David, Harper, John I., Young, Bryan D., Leigh, Irene M., Eady, Robin A. J., O’Toole, Edel A.
Pubblicazione 2005

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

di Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao
Pubblicato in Am J Hum Genet (2020)

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

di Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süßmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith
Pubblicato in Genes (Basel) (2021)

Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

di Siegel, Dawn H., Ashton, Gabrielle H. S., Penagos, Homero G., Lee, James V., Feiler, Heidi S., Wilhelmsen, Kirk C., South, Andrew P., Smith, Frances J. D., Prescott, Alan R., Wessagowit, Vesarat, Oyama, Noritaka, Akiyama, Masashi, Al Aboud, Daifullah, Al Aboud, Khalid, Al Githami, Ahmad, Al Hawsawi, Khalid, Al Ismaily, Abla, Al-Suwaid, Raouf, Atherton, David J., Caputo, Ruggero, Fine, Jo-David, Frieden, Ilona J., Fuchs, Elaine, Haber, Richard M., Harada, Takashi, Kitajima, Yasuo, Mallory, Susan B., Ogawa, Hideoki, Sahin, Sedef, Shimizu, Hiroshi, Suga, Yasushi, Tadini, Gianluca, Tsuchiya, Kikuo, Wiebe, Colin B., Wojnarowska, Fenella, Zaghloul, Adel B., Hamada, Takahiro, Mallipeddi, Rajeev, Eady, Robin A. J., McLean, W. H. Irwin, McGrath, John A., Epstein, Ervin H.
Pubblicazione 2003