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4. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations. von Bartenwerffer W; Has C; Arin MJ; Tantcheva-Poór I; Kreuter A; Kremer K; Arshah T; Hoffmann M; Eming SA; Kohlhase J; Krieg T; Bruckner-Tuderman L; Hartmann K Eur J Dermatol; 2011; 21(2):170-2. PubMed ID: 21382783 [TBL] [Abstract][Full Text] [Related]
5. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. Odorisio T; Di Salvio M; Orecchia A; Di Zenzo G; Piccinni E; Cianfarani F; Travaglione A; Uva P; Bellei B; Conti A; Zambruno G; Castiglia D Hum Mol Genet; 2014 Aug; 23(15):3907-22. PubMed ID: 24599399 [TBL] [Abstract][Full Text] [Related]
6. Gene expression of collagenase and stromelysin in skin fibroblasts derived from dystrophic epidermolysis bullosa. Sugawara T; Nomura K; Hashimoto I J Dermatol Sci; 1993 Oct; 6(2):172-80. PubMed ID: 8274463 [TBL] [Abstract][Full Text] [Related]
7. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327 [TBL] [Abstract][Full Text] [Related]
8. Increased gene expression of matrix metalloproteinase-3 (stromelysin) in skin fibroblasts from patients with severe recessive dystrophic epidermolysis bullosa. Sawamura D; Sugawara T; Hashimoto I; Bruckner-Tuderman L; Fujimoto D; Okada Y; Utsumi N; Shikata H Biochem Biophys Res Commun; 1991 Jan; 174(2):1003-8. PubMed ID: 1704217 [TBL] [Abstract][Full Text] [Related]
9. Anetoderma: an altered balance between metalloproteinases and tissue inhibitors of metalloproteinases. Ghomrasseni S; Dridi M; Gogly B; Bonnefoix M; Vabres P; Venencie PY; Pellat B; Godeau G Am J Dermatopathol; 2002 Apr; 24(2):118-29. PubMed ID: 11979071 [TBL] [Abstract][Full Text] [Related]
10. Altered balance between matrix metalloproteinases and their inhibitors in experimental biliary fibrosis. Kossakowska AE; Edwards DR; Lee SS; Urbanski LS; Stabbler AL; Zhang CL; Phillips BW; Zhang Y; Urbanski SJ Am J Pathol; 1998 Dec; 153(6):1895-902. PubMed ID: 9846979 [TBL] [Abstract][Full Text] [Related]
11. Natural gene therapy in dystrophic epidermolysis bullosa. van den Akker PC; Nijenhuis M; Meijer G; Hofstra RM; Jonkman MF; Pasmooij AM Arch Dermatol; 2012 Feb; 148(2):213-6. PubMed ID: 22004882 [TBL] [Abstract][Full Text] [Related]
12. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Dang N; Klingberg S; Marr P; Murrell DF J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959 [TBL] [Abstract][Full Text] [Related]
13. MMP and TIMP expression pattern in pleural effusions of different origins. Eickelberg O; Sommerfeld CO; Wyser C; Tamm M; Reichenberger F; Bardin PG; Solèr M; Roth M; Perruchoud AP Am J Respir Crit Care Med; 1997 Dec; 156(6):1987-92. PubMed ID: 9412584 [TBL] [Abstract][Full Text] [Related]
14. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332 [TBL] [Abstract][Full Text] [Related]
15. "Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Vaccaro M; Moretti G; Guarneri F; Cannavò S; Magaudda L Eur J Dermatol; 2000 Aug; 10(6):436-8. PubMed ID: 10980463 [TBL] [Abstract][Full Text] [Related]
16. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. van den Akker PC; van Essen AJ; Kraak MM; Meijer R; Nijenhuis M; Meijer G; Hofstra RM; Pas HH; Scheffer H; Jonkman MF J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875 [TBL] [Abstract][Full Text] [Related]
17. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Dang N; Murrell DF Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993 [TBL] [Abstract][Full Text] [Related]
19. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Weinel S; Lucky AW; Uitto J; Pfendner EG; Choo D Pediatr Dermatol; 2008; 25(2):210-4. PubMed ID: 18429782 [TBL] [Abstract][Full Text] [Related]
20. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. van den Akker PC; Mellerio JE; Martinez AE; Liu L; Meijer R; Dopping-Hepenstal PJ; van Essen AJ; Scheffer H; Hofstra RM; McGrath JA; Jonkman MF J Med Genet; 2011 Mar; 48(3):160-7. PubMed ID: 21113014 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]