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Results: 1-25 | 26-50 | 51-75 | 76-95
Results: 26-50/95
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
Authors: Ringpfeil, F Nakano, A Uitto, J Pulkkinen, L
Citation: F. Ringpfeil et al., Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum, AM J HU GEN, 68(3), 2001, pp. 642-652
Progress in molecular dermatology
Authors: Bruckner-Tuderman, L Uitto, J
Citation: L. Bruckner-tuderman et J. Uitto, Progress in molecular dermatology, ACT DER-VEN, 81(3), 2001, pp. 161-162
Increased glycosaminoglycans production in sclerosing basal cell carcinoma-derived fibroblasts and stimulation of normal skin fibroblast glycosaminoglycans production by a cytokine-derived from sclerosing basal cell carcinoma
Authors: Moy, RL Potter, TS Uitto, J
Citation: Rl. Moy et al., Increased glycosaminoglycans production in sclerosing basal cell carcinoma-derived fibroblasts and stimulation of normal skin fibroblast glycosaminoglycans production by a cytokine-derived from sclerosing basal cell carcinoma, DERM SURG, 26(11), 2000, pp. 1029-1035
The genodermatoses: Candidate diseases for gene therapy
Authors: Uitto, J Pulkkinen, L
Citation: J. Uitto et L. Pulkkinen, The genodermatoses: Candidate diseases for gene therapy, HUM GENE TH, 11(16), 2000, pp. 2267-2275
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
Authors: Cai, L Struk, B Adams, MD Ji, W Haaf, T Kang, HL Dho, SH Xu, XQ Ringpfeil, F Nancarrow, J Zach, S Schaen, L Stumm, M Niu, TH Chung, J Lunze, K Verrecchia, B Goldsmith, LA Viljoen, D Figuera, LE Fuchs, W Lebwohl, M Uitto, J Richards, R Hohl, D Ramesar, R Callen, DF Kim, UJ Doggett, NA Neldner, KH Lindpainter, K
Citation: L. Cai et al., A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure, J MOL MED-J, 78(1), 2000, pp. 36-46
Cytokine modulation of extracellular matrix gene expression: relevance to fibrotic skin diseases
Authors: Uitto, J Kouba, D
Citation: J. Uitto et D. Kouba, Cytokine modulation of extracellular matrix gene expression: relevance to fibrotic skin diseases, J DERMA SCI, 24, 2000, pp. S60-S69
Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily
Authors: Ishikawa, H Li, K Tamai, K Sawamura, D Uitto, J
Citation: H. Ishikawa et al., Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily, EXP DERMATO, 9(4), 2000, pp. 229-239
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
Authors: Smith, FJD Fisher, MP Healy, E Rees, JL Bonifas, JM Epstein, EH Tan, EML Uitto, J McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma, EXP DERMATO, 9(3), 2000, pp. 170-177
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A reportof two case reports with molecular correlation and clinical management
Authors: Wallerstein, R Klein, ML Genieser, N Pulkkinen, L Uitto, J
Citation: R. Wallerstein et al., Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A reportof two case reports with molecular correlation and clinical management, PEDIAT DERM, 17(4), 2000, pp. 286-289
Cutaneous gene therapy - Principles and prospects
Authors: Lin, MTS Pulkkinen, L Uitto, J
Citation: Mts. Lin et al., Cutaneous gene therapy - Principles and prospects, DERM CLIN, 18(1), 2000, pp. 177
The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3
Authors: Richard, G Brown, N Smith, LE Terrinoni, A Melino, G MacKie, RM Bale, SJ Uitto, J
Citation: G. Richard et al., The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3, HUM GENET, 106(3), 2000, pp. 321-329
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa
Authors: Lee, JYY Li, C Chao, SC Pulkkinen, L Uitto, J
Citation: Jyy. Lee et al., A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa, ARCH DERM R, 292(4), 2000, pp. 159-163
Congenital focal segmental glomerulosclerosis associated with beta 4 integrin mutation and epidermolysis bullosa
Authors: Kambham, N Tanji, N Seigle, RL Markowitz, GS Pulkkinen, L Uitto, J D'Agati, VD
Citation: N. Kambham et al., Congenital focal segmental glomerulosclerosis associated with beta 4 integrin mutation and epidermolysis bullosa, AM J KIDNEY, 36(1), 2000, pp. 190-196
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
Authors: Fine, JD Eady, RAJ Bauer, EA Briggaman, RA Bruckner-Tuderman, L Christiano, A Heagerty, A Hintner, H Jonkman, MF McGrath, J McGuire, J Moshell, A Shimizu, H Tadini, G Uitto, J
Citation: Jd. Fine et al., Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa, J AM ACAD D, 42(6), 2000, pp. 1051-1066
Lichen planus pemphigoides with IgG autoantibodies to the 180 kd bullous pemphigoid antigen (type XVII collagen)
Authors: Hsu, S Ghohestani, RF Uitto, J
Citation: S. Hsu et al., Lichen planus pemphigoides with IgG autoantibodies to the 180 kd bullous pemphigoid antigen (type XVII collagen), J AM ACAD D, 42(1), 2000, pp. 136-141
Common fluorescent sunlamps are an inappropriate substitute for sunlight
Authors: Brown, DB Peritz, AE Mitchell, DL Chiarello, S Uitto, J Gasparro, FP
Citation: Db. Brown et al., Common fluorescent sunlamps are an inappropriate substitute for sunlight, PHOTOCHEM P, 72(3), 2000, pp. 340-344
Protection against pemphigus foliaceus by desmoglein 3 in neonates.
Authors: Wu, H Wang, ZH Yan, A Lyle, S Fakharzadeh, S Wahl, JK Wheelock, MJ Ishikawa, H Uitto, J Amagai, M Stanley, JR
Citation: H. Wu et al., Protection against pemphigus foliaceus by desmoglein 3 in neonates., N ENG J MED, 343(1), 2000, pp. 31-35
Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
Authors: Ringpfeil, F Lebwohl, MG Christiano, AM Uitto, J
Citation: F. Ringpfeil et al., Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter, P NAS US, 97(11), 2000, pp. 6001-6006
Herlitz junctional epidermolysis bullosa: Novel and recurrent mutations inthe LAMB3 gene and the population carrier frequency
Authors: Nakano, A Pfendner, E Pulkkinen, L Hashimoto, I Uitto, J
Citation: A. Nakano et al., Herlitz junctional epidermolysis bullosa: Novel and recurrent mutations inthe LAMB3 gene and the population carrier frequency, J INVES DER, 115(3), 2000, pp. 493-498
Envoplakin and periplakin, the paraneoplastic pemphigus antigens, are alsorecognized by pemphigus foliaceus autoantibodies
Authors: Kazerounian, S Mahoney, MG Uitto, J Aho, S
Citation: S. Kazerounian et al., Envoplakin and periplakin, the paraneoplastic pemphigus antigens, are alsorecognized by pemphigus foliaceus autoantibodies, J INVES DER, 115(3), 2000, pp. 505-507
Complete paternal uniparental isodisomy of chromosome 1: A novel mechanismfor Herlitz junctional epidermolysis bullosa
Authors: Takizawa, Y Pulkkinen, L Chao, SC Nakajima, H Nakano, Y Shimizu, H Uitto, J
Citation: Y. Takizawa et al., Complete paternal uniparental isodisomy of chromosome 1: A novel mechanismfor Herlitz junctional epidermolysis bullosa, J INVES DER, 115(2), 2000, pp. 307-311
Netherton syndrome is not linked to 18q12, a region homologous to the murine Lanceolate Hair (lah) locus
Authors: Sprecher, E Bale, SJ DiGiovanna, JJ Uitto, J Richard, G
Citation: E. Sprecher et al., Netherton syndrome is not linked to 18q12, a region homologous to the murine Lanceolate Hair (lah) locus, J INVES DER, 114(4), 2000, pp. 741-742
Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene
Authors: Kunz, ME Rouan, F Pulkkinen, L Hamm, H Jeschke, R Bruckner-Tuderman, L Brocker, EB Wiche, G Uitto, J Zillikens, D
Citation: Me. Kunz et al., Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene, J INVES DER, 114(2), 2000, pp. 376-380
Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy
Authors: Rouan, F Pulkkinen, L Meneguzzi, G LaForgia, S Hyde, P Kim, DU Richard, G Uitto, J
Citation: F. Rouan et al., Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy, J INVES DER, 114(2), 2000, pp. 381-387
Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa
Authors: Masunaga, T Shimizu, H Takizawa, Y Uitto, J Nishikawa, T
Citation: T. Masunaga et al., Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa, J INVES DER, 114(1), 2000, pp. 204-205
Risultati: 1-25 | 26-50 | 51-75 | 76-95