These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116 [TBL] [Abstract][Full Text] [Related]
30. Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. Väisänen L; Has C; Franzke C; Hurskainen T; Tuomi ML; Bruckner-Tuderman L; Tasanen K J Invest Dermatol; 2005 Dec; 125(6):1112-8. PubMed ID: 16354180 [TBL] [Abstract][Full Text] [Related]
31. Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity. Wen D; Hunjan M; Bardhan A; Harper N; Ogboli M; Ozoemena L; Liu L; Fine JD; Chapple I; Balacco DL; Heagerty A J Invest Dermatol; 2024 Jun; 144(6):1334-1343.e14. PubMed ID: 38157931 [TBL] [Abstract][Full Text] [Related]
32. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Pasmooij AM; Pas HH; Deviaene FC; Nijenhuis M; Jonkman MF Am J Hum Genet; 2005 Nov; 77(5):727-40. PubMed ID: 16252234 [TBL] [Abstract][Full Text] [Related]
33. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. Tasanen K; Floeth M; Schumann H; Bruckner-Tuderman L J Invest Dermatol; 2000 Aug; 115(2):207-12. PubMed ID: 10951237 [TBL] [Abstract][Full Text] [Related]
34. Genetic variation in COL17A1 and the development of bullous pemphigoid. Winsey S; Lonie L; Allen J; Bunce M; Marshall SE; Wojnarowska F Exp Dermatol; 2004 Mar; 13(3):140-7. PubMed ID: 14987253 [TBL] [Abstract][Full Text] [Related]
35. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients. Vincent AL; de Karolyi B; Patel DV; Wheeldon CE; McGhee CN Br J Ophthalmol; 2010 Jul; 94(7):836-42. PubMed ID: 19948560 [TBL] [Abstract][Full Text] [Related]
36. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Boutboul S; Black GC; Moore JE; Sinton J; Menasche M; Munier FL; Laroche L; Abitbol M; Schorderet DF Hum Mutat; 2006 Jun; 27(6):553-7. PubMed ID: 16652336 [TBL] [Abstract][Full Text] [Related]
37. New versatile monoclonal antibodies against type XVII collagen endodomain for diagnosis and subtyping COL17A1-associated junctional epidermolysis bullosa. Yuen WY; Di Zenzo G; Jonkman MF; Pas HH J Eur Acad Dermatol Venereol; 2016 Aug; 30(8):1426-7. PubMed ID: 26334130 [No Abstract] [Full Text] [Related]