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1 |
Material Type: Artigo
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Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosaGACHE, Yannick ; BALDESCHI, Christine ; DEL RIO, Marcela ; GAGNOUX-PALACIOS, Laurent ; LARCHER, Fernando ; LACOUR, Jean-Philippe ; MENEGUZZI, GuerrinoHuman gene therapy, 2004-10, Vol.15 (10), p.921-933 [Periódico revisado por pares]Larchmont, NY: LiebertTexto completo disponível |
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Material Type: Artigo
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Functional Correction of Type VII Collagen Expression in Dystrophic Epidermolysis BullosaMurauer, Eva M. ; Gache, Yannick ; Gratz, Iris K. ; Klausegger, Alfred ; Muss, Wolfgang ; Gruber, Christina ; Meneguzzi, Guerrino ; Hintner, Helmut ; Bauer, Johann W.Journal of investigative dermatology, 2011-01, Vol.131 (1), p.74-83 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma PigmentosumGonçalves-Maia, Maria ; Gache, Yannick ; Basante, Miguel ; Cosson, Estelle ; Salavagione, Emie ; Muller, Margot ; Bernerd, Françoise ; Avril, Marie Françoise ; Schaub, Sébastien ; Sarasin, Alain ; Braud, Véronique M. ; Magnaldo, ThierryJournal of investigative dermatology, 2020-09, Vol.140 (9), p.1723-1732 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice‐site variant in Hermansky–Pudlak Syndrome 5 geneMériot, Marina ; Hitte, Christophe ; Rimbault, Maud ; Dufaure de Citres, Caroline ; Gache, Vincent ; Abitbol, MariePigment cell and melanoma research, 2020-11, Vol.33 (6), p.814-825 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Rapid Decay of α6 Integrin Caused by a Mis-Sense Mutation in the Propeller Domain Results in Severe Junctional Epidermolysis Bullosa with Pyloric AtresiaLestringant, Gilles ; Allegra, Maryline ; Gagnoux-Palacios, Laurent ; Gache, Yannick ; Roques, Stéphanie ; Ortonne, Jean-Paul ; Meneguzzi, GuerrinoJournal of investigative dermatology, 2003-12, Vol.121 (6), p.1336-1343 [Periódico revisado por pares]Danvers, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Homozygous In-Frame Deletion in the Collagenous Domain of Bullous Pemphigoid Antigen BP180 (Type XVII Collagen) Causes Generalized Atrophic Benign Epidermolysis BullosaChavanas, Stéphane ; Gache, Yannick ; Tadini, GianLuca ; Pulkkinen, Leena ; Uitto, Jouni ; Ortonne, Jean Paul ; Meneguzzi, GuerrinoJournal of investigative dermatology, 1997-07, Vol.109 (1), p.74-78 [Periódico revisado por pares]Danvers, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragilityHas, C. ; Bauer, J.W. ; Bodemer, C. ; Bolling, M.C. ; Bruckner‐Tuderman, L. ; Diem, A. ; Fine, J.‐D. ; Heagerty, A. ; Hovnanian, A. ; Marinkovich, M.P. ; Martinez, A.E. ; McGrath, J.A. ; Moss, C. ; Murrell, D.F. ; Palisson, F. ; Schwieger‐Briel, A. ; Sprecher, E. ; Tamai, K. ; Uitto, J. ; Woodley, D.T. ; Zambruno, G. ; Mellerio, J.E.British journal of dermatology (1951), 2020-10, Vol.183 (4), p.614-627 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaDang, Ningning ; Murrell, Dédée F.Experimental dermatology, 2008-07, Vol.17 (7), p.553-568 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
9 |
Material Type: Artigo
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Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary KeratinocytesLatella, Maria Carmela ; Cocchiarella, Fabienne ; De Rosa, Laura ; Turchiano, Giandomenico ; Gonçalves, Manuel A.F.V. ; Larcher, Fernando ; De Luca, Michele ; Recchia, AlessandraJournal of investigative dermatology, 2017-04, Vol.137 (4), p.836-844 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical StudyBornert, Olivier ; Hogervorst, Marieke ; Nauroy, Pauline ; Bischof, Johannes ; Swildens, Jim ; Athanasiou, Ioannis ; Tufa, Sara F. ; Keene, Douglas R. ; Kiritsi, Dimitra ; Hainzl, Stefan ; Murauer, Eva M. ; Marinkovich, M. Peter ; Platenburg, Gerard ; Hausser, Ingrid ; Wally, Verena ; Ritsema, Tita ; Koller, Ulrich ; Haisma, Elisabeth M. ; Nyström, AlexanderJournal of investigative dermatology, 2021-04, Vol.141 (4), p.883-893.e6 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |