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48. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. McMillan JR; McGrath JA; Tidman MJ; Eady RA J Invest Dermatol; 1998 Feb; 110(2):132-7. PubMed ID: 9457907 [TBL] [Abstract][Full Text] [Related]
49. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Ashton GH; Mellerio JE; Dunnill MG; Pulkkinen L; Christiano AM; Uitto J; Eady RA; McGrath JA Br J Dermatol; 1997 May; 136(5):674-7. PubMed ID: 9205497 [TBL] [Abstract][Full Text] [Related]
50. Generalized gravis junctional epidermolysis bullosa: case report, laboratory evaluation, and review of recent advances. Lim KK; Su WP; McEvoy MT; Pittelkow MR Mayo Clin Proc; 1996 Sep; 71(9):863-8. PubMed ID: 8790263 [TBL] [Abstract][Full Text] [Related]
51. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Posteraro P; Sorvillo S; Gagnoux-Palacios L; Angelo C; Paradisi M; Meneguzzi G; Castiglia D; Zambruno G Biochem Biophys Res Commun; 1998 Feb; 243(3):758-64. PubMed ID: 9501007 [TBL] [Abstract][Full Text] [Related]
52. DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. Cserhalmi-Friedman PB; Yeboa KA; Christiano AM Clin Exp Dermatol; 2001 Mar; 26(2):205-7. PubMed ID: 11298117 [TBL] [Abstract][Full Text] [Related]
54. Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. Hammersen J; Has C; Naumann-Bartsch N; Stachel D; Kiritsi D; Söder S; Tardieu M; Metzler M; Bruckner-Tuderman L; Schneider H J Invest Dermatol; 2016 Nov; 136(11):2150-2157. PubMed ID: 27375110 [TBL] [Abstract][Full Text] [Related]
55. CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient. Benati D; Miselli F; Cocchiarella F; Patrizi C; Carretero M; Baldassarri S; Ammendola V; Has C; Colloca S; Del Rio M; Larcher F; Recchia A Mol Ther; 2018 Nov; 26(11):2592-2603. PubMed ID: 30122422 [TBL] [Abstract][Full Text] [Related]
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59. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Hata D; Miyazaki M; Seto S; Kadota E; Muso E; Takasu K; Nakano A; Tamai K; Uitto J; Nagata M; Moriyama K; Miyazaki K Pediatrics; 2005 Oct; 116(4):e601-7. PubMed ID: 16147969 [TBL] [Abstract][Full Text] [Related]
60. Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature. Bauer J; Schumann H; Sönnichsen K; Tomaske M; Bosk A; Bruckner-Tuderman L; Rassner G; Garbe C Eur J Pediatr; 2002 Dec; 161(12):672-9. PubMed ID: 12447669 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]