Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa

by Rodari, G., Guez, S., Manzoni, F., Chalouhi, K. K., Profka, E., Bergamaschi, S., Salera, S., Tadini, G., Ulivieri, F. M., Spada, A., Giavoli, C., Esposito, S.
Published in Osteoporosis international

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

by Arin, M.J., Grimberg, G., Schumann, H., De Almeida Jr, H., Chang, Y.-R., Tadini, G., Kohlhase, J., Krieg, T., Bruckner-Tuderman, L., Has, C.
Published in British journal of dermatology (1951)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

by Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.
Published in Genetics in medicine

Oral manifestations in a boy with X-linked reticulate pigmentary disorder

by Callea, M, Maglione, M, Yavuz, I, Deroma, L, Willoughby, CE, Tadini, G
Published in Head & face medicine

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

by Esposito, G., Tadini, G., Paparo, F., Viola, A., Ieno, L., Pennacchia, W., Messina, F., Giordano, L., Piccirillo, A., Auricchio, L.
Published in British journal of dermatology (1951)

Intracellular degradation of β4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

by Micheloni, A., De Luca, N., Tadini, G., Zambruno, G., D'Alessio, M.
Published in British journal of dermatology (1951)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

by 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
Published in Orphanet journal of rare diseases

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

by Lefèvre, Caroline, Bouadjar, Bakar, Ferrand, Véronique, Tadini, Gianluca, Mégarbané, André, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads...

by Drera, B, Ritelli, M, Tadini, G, Zoppi, N, Venturini, M, Calzavara-Pinton, P.G, Barlati, S, Colombi, M
Published in Journal of dermatological science

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

by Brancati, F, Valente, E M, Tadini, G, Caputo, V, Di Benedetto, A, Gelmetti, C, Dallapiccola, B
Published in Journal of medical genetics

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

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

582 A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS)

by Conti, C.J., Guerrero-Aspizua, S., Escamez, M., Garcia-Martín, A., Castiglia, D., Itin, P., Tadini, G., Martin, L., Has, C., del Río, M.
Published in Journal of investigative dermatology

Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

by Micheloni, A, De Luca, N, Tadini, G, Zambruno, G, D'Alessio, M
Published in British journal of dermatology (1951)

Localized peeling skin syndrome: case report with ultrastructural study

by BRUSASCO, A, VERALDI, S, TADINI, G, CAPUTO, R
Published in British journal of dermatology (1951)

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

by 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.
Published in American journal of human genetics

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa

by Tadini, Gianluca, Pezzani, Lidia, Ghirardello, Stefano, Rebulla, Paolo, Esposito, Susanna, Mosca, Fabio
Published in BMJ case reports

Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa

by FINE, J.-D, EADY, R. A. J, MCGUIRE, J, MOSHELL, A, SHIMIZU, H, TADINI, G, UITTO, J, BAUER, E. A, BRIGGAMAN, R. A, BRUCKNER-TUDERMAN, L, CHRISTIANO, A, HEAGERTY, A, HINTNER, G. H, JONKMAN, M. F, MCGRATH, J
Published in Journal of the American Academy of Dermatology

A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

by Gardella, Rita, Barlati, Sergio, Zoppi, Nicoletta, Tadini, Gianluca, Colombi, Marina
Published in Human mutation

Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata)

by BRUSASCO, A, CAMBIAGHI, S, TADINI, G, BERTI, E, CAPUTO, R
Published in British journal of dermatology (1951)

Blaschko lines of the face: A step closer to completing the map

by Restano, Lucia, Cambiaghi, Stefano, Tadini, Gianluca, Cerri, Amilcare, Caputo, Ruggero
Published in Journal of the American Academy of Dermatology