未登录Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Fine, Jo-David; Bruckner-Tuderman, Leena; Eady, Robin A. J.; Bauer, Eugene A.; Bauer, Johann W.; Has, Cristina; Heagerty, Adrian; Hintner, Helmut; Hovnanian, Alain; Jonkman, Marcel F.; Leigh, Irene; Marinkovich, M. Peter; Martinez, Anna E.; McGrath, John A.; Mellerio, Jemima E.; Moss, Celia; Murrell, Dedee F.; Shimizu, Hiroshi; Uitto, Jouni; Woodley, David; Zambruno, Giovanna .png)
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收藏分享 收藏 Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated casesMellerio, JE; Smith, FJD; McMillan, JR; McLean, WHI; McGrath, JA; Morrison, GAJ; Tierney, P; Albert, DM; Wiche, G; Leigh, IM; Geddes, JF; Lane, EB; Uitto, J; Eady, RAJ 分享 收藏 分享 收藏 分享 收藏 The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EBFine, Jo-David; Eady, Robin A. J.; Bauer, Eugene A.; Bauer, Johann W.; Bruckner-Tuderman, Leena; Heagerty, Adrian; Hintner, Helmut; Hovnanian, Alain; Jonkman, Marcel E.; Leigh, Irene; McGrath, John A.; Mellerio, Jemima E.; Murrell, Dedee E.; Shimizu, Hiroshi; Uitto, Jouni; Vahlquist, Anders; Woodley, David; Zambruno, Giovanna 分享 收藏 分享 收藏 分享 收藏 A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Morgan, NV; Pasha, S; Johnson, CA; Ainsworth, JR; Eady, RAJ; Dawood, B; McKeown, C; Trembath, RC; Wilde, J; Watson, SP; Maher, ER 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeAshton, GHS; McLean, WHI; South, AP; Oyama, N; Smith, FJD; Al-Suwaid, R; Al ismaily, A; Atherton, DJ; Harwood, CA; Leigh, IM; Moss, C; Didona, B; Zambruno, G; Patrizi, A; Eady, RAJ; McGrath, JA 分享 收藏 Desmosomal proteins, including desmoglein 3, serve as novel negative markers for epidermal stem cell-containing population of keratinocytesWan, H; Stone, MG; Simpson, C; Reynolds, LE; Marshall, JF; Hart, IR; Hodivala-Dilke, KM; Eady, RAJ 分享 收藏 分享 收藏 Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability缺乏plakophilin 1会增加角质形成细胞迁移并降低染色体稳定性South, AP; Wan, H; Stone, MG; Dopping-Hepenstal, PJC; Purkis, PE; Marshall, JF; Leigh, IM; Eady, RAJ; Hart, IR; McGrath, JA 分享 收藏 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeSiegel, DH; Ashton, GHS; Penagos, HG; Lee, JV; Feiler, HS; Wilhelmsen, KC; South, AP; Smith, FJD; Prescott, AR; Wessagowit, V; Oyama, N; Akiyama, M; Al Aboud, D; Al Aboud, K; Al Githami, A; Al Hawsawi, K; Al Ismaily, A; Al-Suwaid, R; Atherton, DJ; Caputo, R; Fine, JD; Frieden, IJ; Fuchs, E; Haber, RM; Harada, T; Kitajima, Y; Mallory, SB; Ogawa, H; Sahin, S; Shimizu, H; Suga, Y; Tadini, G; Tsuchiya, K; Wiebe, CB; Wojnarowska, F; Zaghloul, AB; Hamada, T; Mallipeddi, R; Eady, RAJ; McLean, WHI; McGrath, JA; Epstein, EH 分享 收藏 Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1Hamada, T; South, AP; Mitsuhashi, Y; Kinebuchi, T; Bleck, O; Ashton, GHS; Hozumi, Y; Suzuki, T; Hashimoto, T; Eady, RAJ; McGrath, JA 分享 收藏 分享 收藏 
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