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4. "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]
5. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Dunnill MG; McGrath JA; Richards AJ; Christiano AM; Uitto J; Pope FM; Eady RA J Invest Dermatol; 1996 Aug; 107(2):171-7. PubMed ID: 8757758 [TBL] [Abstract][Full Text] [Related]
6. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Shimizu H; Sato M; Ban M; Kitajima Y; Ishizaki S; Harada T; Bruckner-Tuderman L; Fine JD; Burgeson R; Kon A; McGrath JA; Christiano AM; Uitto J; Nishikawa T Arch Dermatol; 1997 Sep; 133(9):1111-7. PubMed ID: 9301588 [TBL] [Abstract][Full Text] [Related]
7. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. McGrath JA; Ishida-Yamamoto A; O'Grady A; Leigh IM; Eady RA J Invest Dermatol; 1993 Apr; 100(4):366-72. PubMed ID: 8454899 [TBL] [Abstract][Full Text] [Related]
8. [Diagnosis by electron microscopy of recessive dystrophic epidermolysis bullosa]. Glorio RR; Solari A; Woscoff A Medicina (B Aires); 2000; 60(3):354-6. PubMed ID: 11050816 [TBL] [Abstract][Full Text] [Related]
9. Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa. Almeida HL; Monteiro L; Marques e Silva R; Rocha NM; Scheffer H An Bras Dermatol; 2013; 88(6):966-8. PubMed ID: 24474107 [TBL] [Abstract][Full Text] [Related]
10. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Christiano AM; Anhalt G; Gibbons S; Bauer EA; Uitto J Genomics; 1994 May; 21(1):160-8. PubMed ID: 8088783 [TBL] [Abstract][Full Text] [Related]
11. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients. Ryoo YW; Kim BC; Lee KS J Dermatol Sci; 2001 Jun; 26(2):125-32. PubMed ID: 11378329 [TBL] [Abstract][Full Text] [Related]
12. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. Christiano AM; Suga Y; Greenspan DS; Ogawa H; Uitto J J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979 [TBL] [Abstract][Full Text] [Related]
13. Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies. Lin AN; Smith LT; Fine JD J Am Acad Dermatol; 1995 Aug; 33(2 Pt 2):361-5. PubMed ID: 7615886 [TBL] [Abstract][Full Text] [Related]
14. 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]
17. Dystrophic epidermolysis bullosa inversa: a case report. Altomare GF; Polenghi M; Pigatto PD; Nazzaro V; Piattoni F Dermatologica; 1990; 181(2):145-8. PubMed ID: 2173667 [TBL] [Abstract][Full Text] [Related]
18. Bullous dermolysis of the newborn: four new cases and clinical review. Radkevich-Brown O; Shwayder T Pediatr Dermatol; 2013; 30(6):736-40. PubMed ID: 24117545 [TBL] [Abstract][Full Text] [Related]
19. COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. Pruneddu S; Castiglia D; Floriddia G; Cottoni F; Zambruno G Dermatology; 2011 Feb; 222(1):10-4. PubMed ID: 21196708 [TBL] [Abstract][Full Text] [Related]
20. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. Shimizu H; McGrath JA; Christiano AM; Nishikawa T; Uitto J J Invest Dermatol; 1996 Jan; 106(1):119-24. PubMed ID: 8592061 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]